Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STXBP1

Variant:p.R518C

Back to variants list

STXBP1

NM_001032221.6:p.R518C

hg38:chr9:127682410 C>T

Associated Papers

Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

Ngoh A et al.

Annals of Neurology, 2025

40944498 (PubMed )

Supplement: ANA-98-951-s001.docx

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."