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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZFPM2

Variant:p.L16_D18delFs

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ZFPM2

NM_012082.4:p.L16_D18delFs

hg38:chr8:105419149 CTTGAAGAT>C

Associated Papers

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

Robevska G et al.

Human Mutation, 2018

29027299 (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."