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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes

Neurogenetics(2024)10.1007/s10048-024-00773-9Source: DataRank Database

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes is a research paper published in Neurogenetics (2024). On theSindex it has a DataRank of 0. It has been cited 4 times.

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Open Access4 citations

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Enrichment:Funding (3 grants)OA: hybridTopics (19)IDs (PubMed, PMC)Annotations (1)

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Accessible (1/2)

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Authors (16)

Sylvia Safwat,Eli Matsell ORCID,Namarata Battula,Ahlam A. Hamed,Inaam N. Mohamed ORCID

Live enrichment

PubMed:39066872 PMC:PMC11534842

NIH HHS

Grant: R01NS109149

Robert Wood Johnson Foundation

Grant: 74260

Ministry of Higher Education, Egypt

hybridLicense: cc-by

publisherhttps://link.springer.com/content/pdf/10.1007/s10048-024-00773-9.pdf

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/11534842

Europe_PMChttps://europepmc.org/articles/PMC11534842

Europe_PMChttps://europepmc.org/articles/PMC11534842?pdf=render

MeSH Terms

HumansPhospholipid Transfer ProteinsPedigreeDevelopmental DisabilitiesConsanguinityPhenotypeMutation, MissenseChildChild, PreschoolFemaleMaleAdenosine TriphosphatasesIntellectual DisabilityExome Sequencing

Keywords

Neurodevelopmental DisorderRare VariantsAtp8a2Camrq4Atpase (Min.5-max. 8)

A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes

FAIR Checklist

Authors (16)

Funding (3 grants)

Open Access

Topics

Annotations (Europe PMC)