Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH1
Variant:p.C148R
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RNASEH1

NM_002936.6:p.C148R

Associated Papers

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions.

Manini A et al.

Frontiers in Genetics, 2022

Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions.

Carreño-Gago L et al.

Frontiers in Genetics, 2019

RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNA.

Reyes A et al.

Frontiers in Genetics, 2019

Novel mutation in the RNASEH1 gene in a chronic progressive external ophthalmoplegia patient.

Sachdev A et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2018

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.

Bugiardini E et al.

Neurology. Genetics, 2017

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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."