Varaico: Literature-Extracted Genetic Variants

Gene:TRMT10A
Variant:p.K165_D166Splc
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TRMT10A

NM_001134665.3:p.K165_D166Splc

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

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

Looking for the skeleton in the closet-rare genetic diagnoses in patients with diabetes and skeletal manifestations.

Brener A et al.

Acta Diabetologica, 2022

tRNA methyltransferase 10 homologue A (TRMT10A) mutation in a Chinese patient with diabetes, insulin resistance, intellectual deficiency and microcephaly.

Lin H et al.

Bmj Open Diabetes Research & Care, 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."