Varaico: Literature-Extracted Genetic Variants

Gene:AXIN1
Variant:p.R841*
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AXIN1

NM_003502.4:p.R841*

Associated Papers

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia.

Terhal P et al.

American Journal of Human Genetics, 2023

Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.

Kaushik V et al.

Advanced Genetics (hoboken, N.j.), 2021

36618447 (PubMed )
Supplement: GGN2-2-e10039-s001.zip › Google_Scholar_and_Mastermind_Search_Data_-_for_Submission.xlsx › Google_Scholar___Mastermind

Germline mutations of multiple breast cancer-related genes are differentially associated with triple-negative breast cancers and prognostic factors.

Hata C et al.

Journal of Human Genetics, 2020

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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."