Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D20
Variant:p.Q118fs
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TBC1D20

NM_144628.4:p.Q118fs

Associated Papers

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Liegel RP et al.

American Journal of Human Genetics, 2013

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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."