Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.M1I
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CRYAB

NM_001289808.2:p.M1I

Associated Papers

Rare Genetic Variants Associated With Myocardial Fibrosis: Multi-Ethnic Study of Atherosclerosis.

Shabani M et al.

Frontiers in Cardiovascular Medicine, 2022

Case report: Fatal infantile hypertonic myofibrillar myopathy with compound heterozygous mutations in the CRYAB gene.

Zhang SS et al.

Frontiers in Pediatrics, 2022

A novel homozygous initiation codon variant associated with infantile alpha-Bcrystallinopathy in a Chinese family.

Ma K et al.

Molecular Genetics & Genomic Medicine, 2019

31215171 (PubMed )
Supplement: MGG3-7-e825-s001.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."