Varaico: Literature-Extracted Genetic Variants

Gene:TRIP12
Variant:p.A761V
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TRIP12

NM_004238.3:p.A761V

Associated Papers

The Role of a Novel TRIP12 Mutation in Intellectual Disability: A Molecular and Clinical Investigation in Multiplex Family.

Nobakht R et al.

Journal of Molecular Neuroscience : Mn, 2025

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

Aerden M et al.

European Journal of Human Genetics : Ejhg, 2023

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J et al.

Human Genetics, 2017

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J et al.

Human Genetics, 2017

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Bramswig NC et al.

Human Genetics, 2017

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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."