Varaico: Literature-Extracted Genetic Variants

Gene:TRIP11
Variant:p.K998fs
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TRIP11

NM_004239.4:p.K998fs

Associated Papers

Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.

Del Pino M et al.

European Journal of Medical Genetics, 2021

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

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.

Wehrle A et al.

Jci Insight, 2019

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