Varaico: Literature-Extracted Genetic Variants

Gene:TRMU
Variant:p.R240*
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TRMU

NM_018006.5:p.R240*

Associated Papers

A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.

Jones AB et al.

Scientific Reports, 2025

Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.

Gorman E et al.

Frontiers in Genetics, 2025

40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

The genomic landscape of Epstein-Barr virus-associated pulmonary lymphoepithelioma-like carcinoma.

Hong S et al.

Nature Communications, 2019

31311932 (PubMed )
Supplement: 41467_2019_10902_MOESM7_ESM.xlsx › Sheet1

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Baldridge D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."