Varaico: Literature-Extracted Genetic Variants

Gene:TRIP12
Variant:p.R338*
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TRIP12

NM_001284215.2:p.R338*

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

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H et al.

Nature Communications, 2019

31616000 (PubMed )
Supplement: 41467_2019_12435_MOESM2_ESM.xls › Supp._Data_1

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

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism.

Luhrs K et al.

Autism Research and Treatment, 2017

29250444 (PubMed )
Supplement: 9371964.f1.xlsx › SI_Table3

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Wang T et al.

Nature Communications, 2016

27824329 (PubMed )
Supplement: ncomms13316-s7.xlsx › Supplementary_Data_6
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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."