Varaico: Literature-Extracted Genetic Variants

Gene:DHH
Variant:p.E90A
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DHH

NM_021044.4:p.E90A

Associated Papers

DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation.

Elzaiat M et al.

Human Genetics, 2020

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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."