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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHCR7

Variant:p.H356del1

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DHCR7

NM_001360.3:p.H356del1

hg38:chr11:71435732 CTGG>C

Associated Papers

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Waterham HR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

23042628 (PubMed )

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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."