Varaico: Literature-Extracted Genetic Variants

Gene:TRIP11
Variant:p.R253*
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TRIP11

NM_004239.4:p.R253*

Associated Papers

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Mellis R et al.

Bjog : an International Journal of Obstetrics and Gynaecology, 2022

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

The phenotype range of achondrogenesis 1A.

Grigelioniene G et al.

American Journal of Medical Genetics. Part A, 2013

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