Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.P223_D224del1
Back to variants list

STXBP1

NM_001032221.6:p.P223_D224del1

Associated Papers

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.

Luppe J et al.

European Journal of Human Genetics : Ejhg, 2023

36564538 (PubMed )
Supplement: 41431_2022_1269_MOESM1_ESM.pdf
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."