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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRMT10C

Variant:p.P109R

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TRMT10C

NM_017819.4:p.P109R

hg38:chr3:101565107 C>G

Associated Papers

Clinical presentation of combined oxidative phosphorylation deficiency 30 (COXPD30) and mutations in the TRMT10C gene.

Wang L et al.

Qjm : Monthly Journal of the Association of Physicians, 2025

39745901 (PubMed )

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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."