Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.G154D
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CRYAB

NM_001289808.2:p.G154D

Associated Papers

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.

Marcos AT et al.

Molecular Genetics & Genomic Medicine, 2020

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

Klauke B et al.

Plos One, 2017

29253866 (PubMed )
Supplement: pone.0189489.s006.docx
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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."