Varaico: Literature-Extracted Genetic Variants

Gene:TCF21
Variant:p.G22V
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TCF21

NM_003206.4:p.G22V

Associated Papers

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

Andreasen C et al.

European Journal of Human Genetics : Ejhg, 2013

Gene symbol: ATP7B. Disease: Wilson disease.

Ray K et al.

Human Genetics, 2005

Gene symbol: ATP7B. Disease: Wilson disease.

Ray K et al.

Human Genetics, 2005

Gene symbol: MTM1.

Schultz HL

Human Genetics, 2005

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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."