Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.P25L
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CRYBA1

NM_005208.5:p.P25L

Associated Papers

Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.

Khidiyatova I et al.

Current Issues in Molecular Biology, 2023

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

Javadiyan S et al.

Bmc Medical Genetics, 2017

28482824 (PubMed )
Supplement: 12881_2017_414_MOESM2_ESM.xlsx › Exonic_variants

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."