Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.L812P
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AR

NM_000044.6:p.L812P

Associated Papers

Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.

Montenegro LR et al.

Clinics (sao Paulo, Brazil), 2021

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-s2.xlsx › S6T2

Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.

Jääskeläinen J et al.

Human Mutation, 2006

The androgen receptor gene mutations database (ARDB): 2004 update.

Gottlieb B et al.

Human Mutation, 2004

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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."