Varaico: Literature-Extracted Genetic Variants

Gene:TRIP11
Variant:p.Q1160*
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TRIP11

NM_004239.4:p.Q1160*

Associated Papers

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Wehrle A et al.

Jci Insight, 2019

Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.

Smits P et al.

The New England Journal of Medicine, 2010

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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."