Varaico: Literature-Extracted Genetic Variants

Gene:TRIP12
Variant:p.R14*
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TRIP12

NM_001348323.3:p.R14*

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_

Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.

Hu C et al.

Genes, 2022

[Intellectual disability due to heterozygous c.40C>T variant of TRIP12 gene in a patient].

Liu J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

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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."