Evidence map›Paper›PMID 41399760›Full record

ArticleBiochemistry and biophysics reports2026

Single nucleotide variants in

Franz Müller, Sonja Neuser, Gaurav Shrestha, Netra P Neupane, Katharina J Götze, Nicola Brunetti-Pierri, Gaetano Terrone, Alexandre Reymond, Koen L van Gassen, Eva Brilstra and 21 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biochemistry and biophysics reports, 2026. 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

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

31 authors.

Franz MüllerRudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.
Sonja NeuserInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, 04103, Germany.
Gaurav ShresthaDepartment of Biology, University of Mississippi, Oxford, MS, 38677, USA.
Netra P NeupaneDepartment of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, Houston, TX, 77204-5037, USA.
Katharina J GötzeRudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.
Nicola Brunetti-PierriDepartment of Translational Medicine, Federico II University, Naples, 80131, Italy.
Gaetano TerroneDepartment of Translational Medicine, Federico II University, Naples, 80131, Italy.
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne, Lausanne, 1015, Switzerland.
Koen L van GassenDepartment of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, the Netherlands.
Eva BrilstraDepartment of Genetics, University Medical Center Utrecht, Utrecht, 3584 CX, the Netherlands.
Katharina SteindlInstitute of Medical Genetics, University of Zürich, Schlieren-Zürich, 8952, Switzerland.
Anais BegemannInstitute of Medical Genetics, University of Zürich, Schlieren-Zürich, 8952, Switzerland.
Anita RauchInstitute of Medical Genetics, University of Zürich, Schlieren-Zürich, 8952, Switzerland.
Jonathan RipsGenetic Department, Hadassah Hebrew University Hospital, Jerusalem, 91120, Israel.
Duha FahhamGenetic Department, Hadassah Hebrew University Hospital, Jerusalem, 91120, Israel.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, 3015 CN, the Netherlands.
Olivier PatatService de génétique médicale, Hôpital Purpan, CHU Toulouse, Toulouse, 31300, France.
Jérémie MortreuxLaboratoire de Biologie Médicale Multi-Sites AURAGEN, Lyon, 69003, France.
Matthew Hoi Kin ChauDepartment of Obstetrics and Gynaecology, The Chinese University of Hong Kong, 999077, Hong Kong, China.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.
Elizabeth MizerikDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.
Swati SrivastavaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.
Xi LuoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, USA.
Anne-Kristin DahseRudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.
Nicole ScholzRudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.
Joydip DasDepartment of Pharmacological and Pharmaceutical Sciences, College of Pharmacy, University of Houston, Houston, TX, 77204-5037, USA.
Gregg RomanDepartment of BioMolecular Sciences, University of Mississippi, Oxford, MS, 38677, USA.
Tobias LangenhanRudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, 04103, Germany.
Achmed MrestaniRudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.
Dmitrij LjaschenkoRudolf Schönheimer Institute of Biochemistry, Division of General Biochemistry, Medical Faculty, Leipzig University, Leipzig, 04103, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

UNC13s are presynaptic proteins essential for neurotransmitter release at chemical synapses. In this study, we present eleven patients from nine families with severe neurodevelopmental impairments, who carry rare, biallelic

Indexed as

Chemical synapseDunc13Ethanol sensitivityMolecular dynamics simulationNeurodevelopmental diseaseUnc13UNC13C

Identifiers

PMID41399760
PMCPMC12702192

What OpenQuestion holds

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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.