Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.Q88K
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PRH1

NM_001393989.1:p.Q88K

Associated Papers

Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.

Jin A et al.

Frontiers in Cell and Developmental Biology, 2022

Identification of a membrane-localized cysteine cluster near the substrate-binding sites of the Streptococcus equisimilis hyaluronan synthase.

Kumari K et al.

Glycobiology, 2005

Mutational analysis of active site residues of human adenosine deaminase.

Bhaumik D et al.

The Journal of Biological Chemistry, 1993

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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."