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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHCR7

Variant:p.Q107_V108Splc

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DHCR7

NM_001360.3:p.Q107_V108Splc

hg38:chr11:71443983 G>A

Associated Papers

Characterization of large deletions in the DHCR7 gene.

Lanthaler B et al.

Clinical Genetics, 2015

25040602 (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."