Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.D171A
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CHSY1

NM_014918.5:p.D171A

Associated Papers

Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.

Tian J et al.

American Journal of Human Genetics, 2010

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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."