Varaico: Literature-Extracted Genetic Variants

Gene:POLRMT
Variant:p.L234delFs
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POLRMT

NM_005035.4:p.L234delFs

Associated Papers

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

Van Haute L et al.

Nature Communications, 2023

36823193 (PubMed )
Supplement: 41467_2023_36277_MOESM1_ESM.pdf
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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."