Varaico: Literature-Extracted Genetic Variants

Gene:TRMT10A
Variant:p.K116N
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TRMT10A

NM_001134665.3:p.K116N

Associated Papers

Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.

Samhani C et al.

Diabetes & Metabolism, 2024

Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.

Bartolomaeus T et al.

European Journal of Human Genetics : Ejhg, 2023

Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases

Şıklar Z et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 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."