Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R58H
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DES

NM_001927.4:p.R58H

Associated Papers

Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy.

Andley UP

Expert Reviews in Molecular Medicine, 2006

Interactive domains for chaperone activity in the small heat shock protein, human alphaB crystallin.

Ghosh JG et al.

Biochemistry, 2005

Molecular genetic basis of inherited cataract and associated phenotypes.

Reddy MA et al.

Survey of Ophthalmology, 0

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

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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."