Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.V377I
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DHCR7

NM_001360.3:p.V377I

Associated Papers

Sterol metabolism disorders and neurodevelopment-an update.

Kanungo S et al.

Developmental Disabilities Research Reviews, 2013

Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome.

Houten SM et al.

European Journal of Human Genetics : Ejhg, 2001

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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."