Varaico: Literature-Extracted Genetic Variants

Gene:STXBP2
Variant:p.R64W
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STXBP2

NM_006949.4:p.R64W

Associated Papers

A large meta-analysis identifies genes associated with anterior uveitis.

Gelfman S et al.

Nature Communications, 2023

37949852 (PubMed )
Supplement: 41467_2023_43036_MOESM5_ESM.xlsx › Sheet1

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S2

RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Shi Y et al.

Pharmacogenomics and Personalized Medicine, 2021

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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."