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

Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

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

Zhang SS et al.

Frontiers in Pediatrics, 2022

c.3G>A mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population.

Lu XG et al.

Journal of Integrative Neuroscience, 2021

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

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

Ma K et al.

Molecular Genetics & Genomic Medicine, 2019

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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."