Varaico: Literature-Extracted Genetic Variants

Gene:POLRMT
Variant:p.P294L
Back to variants list

POLRMT

NM_005035.4:p.P294L

Associated Papers

Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.

Fassad MR et al.

Clinical Genetics, 2026

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 985.382
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."