Varaico: Literature-Extracted Genetic Variants

Gene:CLCA4
Variant:p.R732Q
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CLCA4

NM_012128.4:p.R732Q

Associated Papers

Association of protein function-altering variants with cardiometabolic traits: the strong heart study.

Shan Y et al.

Scientific Reports, 2022

35665752 (PubMed )
Supplement: 41598_2022_12866_MOESM2_ESM.xlsx › TableS3

Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene.

Wang J et al.

Frontiers in Pediatrics, 2020

33344382 (PubMed )
Supplement: Table_2.XLSX › Result
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