Varaico: Literature-Extracted Genetic Variants

Gene:CRYGS
Variant:p.Y67N
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CRYGS

NM_017541.4:p.Y67N

Associated Papers

Case report of a CRYGS gene mutation in a patient with congenital cataracts and secondary glaucoma.

Li W et al.

American Journal of Translational Research, 2025

Chemical Properties Determine Solubility and Stability in βγ-Crystallins of the Eye Lens.

Rocha MA et al.

Chembiochem : a European Journal of Chemical Biology, 2021

Conformational dynamics study on human γS-crystallin as an efficient route to childhood blindness.

Bari KJ et al.

Biochemical and Biophysical Research Communications, 2019

Structural and functional characterization of a missense mutant of human γS-crystallin associated with dominant infantile cataracts.

Bari KJ et al.

Biochemical and Biophysical Research Communications, 2018

A novel missense mutation of CRYGS underlies congenital cataract in a Chinese family.

Zhang T et al.

Gene, 2018

A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family.

Wang H et al.

Molecular Vision, 2013

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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."