Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.P155fs
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CRYAB

NM_001289808.2:p.P155fs

Associated Papers

[Overlap of neuropathy and myopathy genes: convergence of two entities].

Stojkovic T et al.

Medecine Sciences : M/s, 2025

Protein Aggregation and Cataract: Role of Age-Related Modifications and Mutations in α-Crystallins.

Budnar P et al.

Biochemistry. Biokhimiia, 2022

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

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

35281256 (PubMed )
Supplement: DataSheet1.docx

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

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

Jiao X et al.

Plos One, 2015

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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."