Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.R450R
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DHCR7

NM_001360.3:p.R450R

Associated Papers

Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Witsch-Baumgartner M et al.

Journal of Medical Genetics, 2008

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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."