Varaico: Literature-Extracted Genetic Variants

Gene:CRYAA
Variant:p.E113K
Back to variants list

CRYAA

NM_000394.4:p.E113K

Associated Papers

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Taylan Şekeroğlu H et al.

Turkish Journal of Ophthalmology, 2021

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

Hansen L et al.

Investigative Ophthalmology & Visual Science, 2009

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

Hansen L et al.

Molecular Vision, 2007

Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.

Hansen L et al.

Investigative Ophthalmology & Visual Science, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."