Varaico: Literature-Extracted Genetic Variants

Gene:TRMT10A
Variant:p.R133*
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TRMT10A

NM_001134665.3:p.R133*

Associated Papers

New Insights Into TRMT10A Syndrome: Case Report and Literature Review.

Ceraolo G et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2025

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

Samhani C et al.

Diabetes & Metabolism, 2024

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

TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys

Stern E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2022

Influence of donor age on induced pluripotent stem cells.

Lo Sardo V et al.

Nature Biotechnology, 2017

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

Narayanan M et al.

F1000research, 2015

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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."