Varaico: Literature-Extracted Genetic Variants

Gene:RRP1
Variant:p.R256C
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RRP1

NM_003683.6:p.R256C

Associated Papers

A validated heart-specific model for splice-disrupting variants in childhood heart disease.

Lesurf R et al.

Genome Medicine, 2024

39402625 (PubMed )
Supplement: 13073_2024_1383_MOESM3_ESM.xlsx › Table_S3

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HPK5_het

Divergent Roles of PI3K Isoforms in PTEN-Deficient Glioblastomas.

Xie S et al.

Cell Reports, 2020

32997991 (PubMed )
Supplement: NIHMS1633676-supplement-2.xlsx › BT224_Mutations
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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."