Varaico: Literature-Extracted Genetic Variants

Gene:TRIP11
Variant:p.M1806V
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TRIP11

NM_004239.4:p.M1806V

Associated Papers

Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia.

Costantini A et al.

Frontiers in Genetics, 2021

Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

Linders PTA et al.

International Journal of Molecular Sciences, 2020

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Wehrle A et al.

Jci Insight, 2019

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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."