ArticleeLife2025
Heterozygous variants in
Abstract read
In one paragraph
Article in eLife, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Decoding variants of uncertain significance in systemic autoinflammatory diseases.Nature reviews. Rheumatology · 2026Review
Corrections and comments
- Update of
Authors and funding
30 authors.
Mengqi Ma *Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.ORCID https://orcid.org/0000-0001-7345-575X
Yiming Zheng *Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.
Mingxi DengDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.
Shenzhao LuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.ORCID https://orcid.org/0000-0003-3117-3900
Xueyang PanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.ORCID https://orcid.org/0000-0003-4453-4971
Xi LuoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.ORCID https://orcid.org/0000-0002-1941-2318
Michelle EtoundiJan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
David Li-KroegerJan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.ORCID https://orcid.org/0000-0001-6473-7691
Kim C WorleyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.
Lauren S BliedenThe Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, United States.
Aimee AllworthDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.
Wei-Liang ChenDepartment of Neurology, Baylor College of Medicine, Houston, United States.
Giuseppe MerlaLaboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Barbara MandrianiDepartment of Interdisciplinary Medicine, University of Bari "Aldo Moro", Bari, Italy.
Catherine E OttenDepartment of Neurology, University of Washington and Seattle Children's Hospital, Seattle, United States.
Pierre BlancSeqOIA Genomics Platform, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.ORCID https://orcid.org/0000-0001-5664-7987
Debdeep DuttaJan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.ORCID https://orcid.org/0000-0003-0989-7013
Shinya YamamotoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.ORCID https://orcid.org/0000-0003-2172-8036
Michael F WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.
Ian A GlassDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.
Jingheng ChenDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.
Elizabeth BlueDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.
Paolo PronteraMedical Genetics and Rare Diseases Unit, Hospital of Perugia, Perugia, Italy.
Jeremie RosainLaboratory of Human Genetics of Infectious Diseases, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
Sandrine MarlinGenetics of Rare Ophthalmological, Auditory and Mitochondrial Disorders, Inserm UMR_S1163, Imagine Institute, Paris, France.
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.
Hugo J BellenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.ORCID https://orcid.org/0000-0001-5992-5989
Undiagnosed Diseases Network
Funding
University of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MUniversity of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8MPilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3MClinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, NEUL, JEFFREY L · 2014 to 2019
$7.8MZebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5MPacific Northwest Undiagnosed Diseases Network Clinical SiteU01HG010233 · NHGRI · UNIVERSITY OF WASHINGTON · PI DIPPLE, KATRINA M, JARVIK, GAIL PAIRITZ · 2018 to 2022
$5.4MA Comprehensive Resource for Manipulating the Drosophila GenomeR24OD031447 · OD · BAYLOR COLLEGE OF MEDICINE · PI HUGO J BELLEN, Oguz Kanca · 2021 to 2026
$5.2MUrine-Derived Cell RNA Sequencing to Improve Diagnosis in Undiagnosed UDN Participants.U01NS134348 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI Carlos A. Bacino, Brendan Lee · 2023 to 2026
$3.8MPacific Northwest Undiagnosed Diseases Network Clinical SiteU01NS134355 · NINDS · UNIVERSITY OF WASHINGTON · PI ELIZABETH ELOYCE BLUE, Katrina M Dipple · 2023 to 2026
$3.0MNHGRI NIH HHS U01 HG007709NHGRI NIH HHS U01 HG007942NHGRI NIH HHS U01 HG010233NHGRI NIH HHS U01 HG011744NHGRI NIH HHS U24 HG011746NHGRI NIH HHS UM1 HG006493NICHD NIH HHS U54 HD083092NIH HHS R24 OD031447NINDS NIH HHS U01 NS134348NINDS NIH HHS U01 NS134355NINDS NIH HHS U54 NS093793ODCDC CDC HHS R24 OD031447
Abstract
Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate (PIP
Indexed as
Phospholipase C gammaVision, OcularAdultAnimalsDrosophila melanogasterFemaleHeterozygoteHumansMaleMutation, MissensePhospholipase C gammaD. melanogasterDrosophilageneticsgenomicshumanmedicinephenotypic heterogeneityPhospholipase C
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.