Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.R119C
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CRYAA

NM_000394.4:p.R119C

Associated Papers

Mutation screening of crystallin genes in Chinese families with congenital cataracts.

Zhuang J et al.

Molecular Vision, 2019

Novel mutations in HSF4 cause congenital cataracts in Chinese families.

Cao Z et al.

Bmc Medical Genetics, 2018

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

Hansen L et al.

Investigative Ophthalmology & Visual Science, 2009

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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."