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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PREPL

Variant:p.D351H

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PREPL

NM_006036.4:p.D351H

hg38:chr2:44338455 C>G

Associated Papers

TP63-truncating variants cause isolated premature ovarian insufficiency.

Tucker EJ et al.

Human Mutation, 2019

30924587 (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."