Varaico: Literature-Extracted Genetic Variants

Gene:ABCB1
Variant:p.R1138W
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ABCB1

NM_001348946.2:p.R1138W

Associated Papers

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Felicio PS et al.

Human Mutation, 2021

33326660 (PubMed )
Supplement: HUMU-42-290-s006.xlsx › Table_S4_-_VUS_identified_

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Le Saux O et al.

American Journal of Human Genetics, 2001

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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."