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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765Source: DataRank Database

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome is a research paper published in American Journal of Medical Genetics Part A (2020). On theSindex it has a DataRank of 0. It has been cited 29 times.

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0DataRank · unranked

Scored on demand from live citation data

Open Access29 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (4 grants)Impact (FWCI 2.02)OA: bronzeTopics (31)IDs (PubMed, OpenAlex)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (29)

Payam Mohassel ORCID,Lucia Laugwitz ORCID,Maha S. Zaki ORCID,Erik‐Jan Kamsteeg ORCID,Reza Maroofian ORCID

Live enrichment

PubMed:32776697 OpenAlex:https://openalex.org/W3048669180

European Research Council

Grant: 309548

Medical Research Council Canada

Grant: MR/N025431/1

National Human Genome Research Institute

Grant: R01 HG009141

Newton Fund

Grant: MR/N027302/1

FWCI

2.02

Citation Percentile

0.9%

Citation Trend

2020

2021

2022

2023

2024

2025

2026

bronzeLicense: http://onlinelibrary.wiley.com/termsAndConditions#vor

journalhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.61765

publisherhttps://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.61765

publisherhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.a.61765

publisherhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61765

publisherhttps://onlinelibrary.wiley.com/doi/full-xml/10.1002/ajmg.a.61765

Fields of Study

Cellular transport and secretionIon channel regulation and functionMyasthenia Gravis and Thymoma

MeSH Terms

AdolescentChildChild, PreschoolFemaleHumansMaleMuscle HypotoniaSynaptic TransmissionPedigreePhenotypeMuscle WeaknessGenetic Predisposition to DiseaseMutation, MissenseMyasthenic Syndromes, CongenitalSynaptotagmin II

Keywords

Congenital myasthenic syndromeSynapseNeuroscienceWeaknessPhenotypeMedicineNeuromuscular junctionPsychologyBiologyGeneticsMutationGeneSurgery

Sustainable Development Goals

SDG 0: Good health and well-being