Varaico: Literature-Extracted Genetic Variants

Gene:TRIP12
Variant:p.P5L
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TRIP12

NM_001348323.3:p.P5L

Associated Papers

Novel TRIP12 variants in two Lebanese patients with neurodevelopmental delay.

Khalifeh S et al.

Bmc Medical Genomics, 2025

41413819 (PubMed )
Supplement: 12920_2025_2299_MOESM1_ESM.xlsx › Supplementary_Table_

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

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1

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."