Varaico: Literature-Extracted Genetic Variants

Gene:SERPINH1
Variant:p.Y230C
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SERPINH1

NM_001235.5:p.Y230C

Associated Papers

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.

Rauch F et al.

American Journal of Human Genetics, 2015

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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."