Varaico: Literature-Extracted Genetic Variants

Gene:STAP1
Variant:p.R12H
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STAP1

NM_012108.4:p.R12H

Associated Papers

A study of elective genome sequencing and pharmacogenetic testing in an unselected population.

Cochran M et al.

Molecular Genetics & Genomic Medicine, 2021

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.

Lamiquiz-Moneo I et al.

Atherosclerosis, 2020

Evaluation of the role of STAP1 in Familial Hypercholesterolemia.

Danyel M et al.

Scientific Reports, 2019

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5

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."