Varaico: Literature-Extracted Genetic Variants

Gene:CHSY1
Variant:p.R588K
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CHSY1

NM_014918.5:p.R588K

Associated Papers

A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.

Sher G et al.

European Journal of Medical Genetics, 2014

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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."