Varaico: Literature-Extracted Genetic Variants

Gene:TRIP12
Variant:p.R1086Splc
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TRIP12

NM_004238.3:p.R1086Splc

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

Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variations.

Donoghue T et al.

American Journal of Medical Genetics. Part A, 2020

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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."