Evidence map›Paper›PMID 38798571›Full record

ArticlemedRxiv : the preprint server for health sciences2024

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of

Kyle P Flannery, Sylvia Safwat, Eli Matsell, Namarata Battula, Ahlam A A Hamed, Inaam N Mohamed, Maha A Elseed, Mahmoud Koko, Rayan Abubaker, Fatima Abozar and 6 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors.

Kyle P FlanneryDepartment of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901.
Sylvia SafwatDepartment of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901.
Eli MatsellDepartment of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, B.C., Canada.
Namarata BattulaDepartment of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901.
Ahlam A A HamedFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Inaam N MohamedFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Maha A ElseedFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Mahmoud KokoInstitute of Endemic Diseases, University of Khartoum, Khartoum, Sudan.
Rayan AbubakerSudanese Neurogenetics Research group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
Fatima AbozarFaculty of Medicine, University of Khartoum, Khartoum, Sudan.
Liena E O ElsayedDepartment of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, P.O.Box 84428, Riyadh 11671, Saudi Arabia.
Vikram BhiseDepartment of Pediatrics and Neurology, Rutgers - Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
Robert S MoldayDepartment of Biochemistry & Molecular Biology, University of British Columbia, Vancouver, B.C., Canada.
Mustafa A SalihConsultant Pediatric Neurologist, Health Sector, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia.
Ashraf YahiaDepartment of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.ORCID 0000-0001-7175-1096
M Chiara ManziniDepartment of Neuroscience & Cell Biology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901.ORCID 0000-0001-7175-1096

Funding

Identification of Genetic and Molecular Pathways in Congenital Rare Disorders Affecting the Brain and MuscleR01NS109149 · NINDS · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI MANZINI, M. CHIARA · 2019 to 2023
$1.7M
NINDS NIH HHS R01 NS109149
6 · The paper itself

Abstract

ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in

Indexed as

ATP8A2ATPase (Min.5-Max. 8)CAMRQ4neurodevelopmental disorderrare variants

Identifiers

PMID38798571
PMCPMC11118633

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.