Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.H104Q
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CRYAB

NM_001289808.2:p.H104Q

Associated Papers

Some properties of three αB-crystallin mutants carrying point substitutions in the C-terminal domain and associated with congenital diseases.

Gerasimovich ES et al.

Biochimie, 2017

A conserved histidine modulates HSPB5 structure to trigger chaperone activity in response to stress-related acidosis.

Rajagopal P et al.

Elife, 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."