Varaico: Literature-Extracted Genetic Variants

Gene:WNT2B
Variant:p.R101Q
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WNT2B

NM_024494.3:p.R101Q

Associated Papers

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study.

Chiou HC et al.

Neoplasia (new York, N.y.), 2020

32438306 (PubMed )
Supplement: mmc1.pdf

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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