Varaico: Literature-Extracted Genetic Variants

Gene:STXBP5L
Variant:p.V379M
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STXBP5L

NM_001308330.2:p.V379M

Associated Papers

Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits.

More RP et al.

Molecular Psychiatry, 2023

Modifier genes in SCN1A-related epilepsy syndromes.

de Lange IM et al.

Molecular Genetics & Genomic Medicine, 2020

Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.

Leo VC et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."