Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D20
Variant:p.D231_V235del0
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TBC1D20

NM_144628.4:p.D231_V235del0

Associated Papers

Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice.

Park AK et al.

Bmc Genetics, 2014

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."