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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DHCR24

Variant:p.A226P

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DHCR24

NM_014762.4:p.A226P

hg38:chr1:54871550 C>G

Associated Papers

A D(V)-like phenotype is obliterated by A226P in the partial D DBS.

Wagner FF et al.

Transfusion, 2001

11493738 (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."