Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.N127N
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STAP1

NM_012108.4:p.N127N

Associated Papers

Evaluation of the role of STAP1 in Familial Hypercholesterolemia.

Danyel M et al.

Scientific Reports, 2019

31427613 (PubMed )
Supplement: 41598_2019_48402_MOESM1_ESM.pdf

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Fouchier SW et al.

Circulation Research, 2014

25035151 (PubMed )
Supplement: 304660r2_online.pdf
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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."