Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.R40_E41Splc
Back to variants list

STAP1

NM_012108.4:p.R40_E41Splc

Associated Papers

Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.

Totoń-Żurańska J et al.

Polish Archives of Internal Medicine, 2023

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Fouchier SW et al.

Circulation Research, 2014

25035151 (PubMed )
Supplement: 304660r2_online.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."