Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.S1548R
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RP1

NM_006269.2:p.S1548R

Associated Papers

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.

Hsieh A et al.

Genome Medicine, 2020

32349777 (PubMed )
Supplement: 13073_2020_738_MOESM1_ESM.xlsx › Table_S3_All_EM-mosaic_Mosaics

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s7.pdf

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Watson CM et al.

Plos One, 2014

25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
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