Varaico: Literature-Extracted Genetic Variants

Gene:CTSA
Variant:p.R48H
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CTSA

NM_000308.4:p.R48H

Associated Papers

Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.

Santhiya ST et al.

Journal of Medical Genetics, 2002

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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."