Varaico: Literature-Extracted Genetic Variants

Gene:STAB2
Variant:p.T1330N
Back to variants list

STAB2

NM_017564.10:p.T1330N

Associated Papers

Exome sequencing of choreoacanthocytosis reveals novel mutations in VPS13A and co-mutation in modifier gene(s).

Chaudhari S et al.

Molecular Genetics and Genomics : Mgg, 2023

37209156 (PubMed )
Supplement: 438_2023_2032_MOESM3_ESM.xlsx › Case_2
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."