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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AKR1C2

Variant:p.K123delFs

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AKR1C2

NM_001393392.1:p.K123delFs

hg38:chr10:5000550 CT>C

Associated Papers

46,XY disorders of sex development: the use of NGS for prevalent variants.

Xie QG et al.

Human Genetics, 2022

35729303 (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."