Varaico: Literature-Extracted Genetic Variants

Gene:NR1H2
Variant:p.P35S
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NR1H2

NM_007121.7:p.P35S

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc2.xlsx › nSMs

A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation.

Perez H et al.

Elife, 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."