Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.D129E
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CRYAB

NM_001289808.2:p.D129E

Associated Papers

Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.

Laurini C et al.

Brain : a Journal of Neurology, 2025

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.

Brodehl A et al.

Human Mutation, 2017

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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."