Varaico: Literature-Extracted Genetic Variants

Gene:TRIP12
Variant:p.Q378*
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TRIP12

NM_004238.3:p.Q378*

Associated Papers

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

Aerden M et al.

European Journal of Human Genetics : Ejhg, 2023

Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.

van der Laan L et al.

International Journal of Molecular Sciences, 2022

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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."