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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRYGA

Variant:p.S40C

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CRYGA

NM_014617.4:p.S40C

hg38:chr2:208163338 T>A

Associated Papers

The genetic landscape of crystallins in congenital cataract.

Berry V et al.

Orphanet Journal of Rare Diseases, 2020

33243271 (PubMed )

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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."