Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.R1652H
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RP1

NM_006269.2:p.R1652H

Associated Papers

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

González-Del Pozo M et al.

Npj Genomic Medicine, 2022

35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf

Genomic and transcriptomic profiling of carcinogenesis in patients with familial adenomatous polyposis.

Li J et al.

Gut, 2020

31744909 (PubMed )
Supplement: gutjnl-2019-319438supp006.xlsx › _FAP__Potential_pathogenic
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