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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TERF2

Variant:p.Q423L

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TERF2

NM_005652.5:p.Q423L

hg38:chr16:69366879 T>A

Associated Papers

Identification of potentially damaging amino acid substitutions leading to human male infertility.

Kuzmin A et al.

Biology of Reproduction, 2009

19369647 (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."