Varaico: Literature-Extracted Genetic Variants

Gene:CCDC40
Variant:p.R934W
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CCDC40

NM_017950.4:p.R934W

Associated Papers

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.

Liu YX et al.

Frontiers in Cardiovascular Medicine, 2022

Molecular profiling of driver events in metastatic uveal melanoma.

Karlsson J et al.

Nature Communications, 2020

32313009 (PubMed )
Supplement: 41467_2020_15606_MOESM4_ESM.xlsx › All_variants
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