Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.T105I
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DHCR7

NM_001360.3:p.T105I

Associated Papers

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

König A et al.

American Journal of Medical Genetics, 2000

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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."