Varaico: Literature-Extracted Genetic Variants

Gene:TRMT10C
Variant:p.R181L
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TRMT10C

NM_017819.4:p.R181L

Associated Papers

The Diseased Mitoribosome.

Ferrari A et al.

Febs Letters, 2021

Severe progressive brain involvement in a patient with TRMT10C mutation.

Camelo CG et al.

Arquivos De Neuro-psiquiatria, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD et al.

American Journal of Human Genetics, 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Green RC et al.

American Journal of Human Genetics, 2016

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.

Metodiev MD et al.

American Journal of Human Genetics, 2016

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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."