Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.W59R
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CRYBB2

NM_000496.3:p.W59R

Associated Papers

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

Blue EE et al.

Birth Defects Research, 2024

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

Delas F et al.

International Journal of Molecular Sciences, 2023

Mutational spectrum in a Chinese cohort with congenital cataracts.

Liu HL et al.

Molecular Genetics & Genomic Medicine, 2023

37337769 (PubMed )
Supplement: MGG3-11-e2196-s001.xlsx › Sheet2
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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."