Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.G543E
Back to variants list

STXBP1

NM_001032221.6:p.G543E

Associated Papers

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s001.xlsx › Feuil2

Multiple transmissions of de novo mutations in families.

Jónsson H et al.

Nature Genetics, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."