Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.I245T
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DHCR7

NM_001360.3:p.I245T

Associated Papers

Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.

Mikó Á et al.

Human Mutation, 2021

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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."