Varaico: Literature-Extracted Genetic Variants

Gene:POLRMT
Variant:p.S1193F
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POLRMT

NM_005035.4:p.S1193F

Associated Papers

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

POLRMT mutations impair mitochondrial transcription causing neurological disease.

Oláhová M et al.

Nature Communications, 2021

Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Chang H et al.

Plos One, 2011

21701589 (PubMed )
Supplement: pone.0021097.s002.xls › a2780_f40r3
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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."