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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEK8

Variant:p.E51_N59insFs

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NEK8

NM_178170.3:p.E51_N59insFs

hg38:chr17:28734085 T>TGAGTGCCAGGTCCTCAAGCTGCTCA

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."