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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRYBA1

Variant:p.Y93_P94del1

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CRYBA1

NM_005208.5:p.Y93_P94del1

hg38:chr17:29252126 ACCC>A

Associated Papers

Congenital polymorphic cataract associated with a G to A splice site mutation in the human beta-crystallin gene CRYβA3/A1.

Yu Y et al.

Molecular Vision, 2012

22919269 (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."