Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.A177V
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STXBP1

NM_001032221.6:p.A177V

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Sleven H et al.

American Journal of Human Genetics, 2017

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

Marchese M et al.

Neuromolecular Medicine, 2016

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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."