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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PIK3CD

Variant:p.R512Q

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PIK3CD

NM_005026.5:p.R512Q

hg38:chr1:9720755 G>A

Associated Papers

Detection of de novo genetic variants in Mayer-Rokitansky-Küster-Hauser syndrome by whole genome sequencing.

Pan HX et al.

European Journal of Obstetrics & Gynecology and Reproductive Biology: X, 2019

31517310 (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."