Varaico: Literature-Extracted Genetic Variants

Gene:RNASEH1
Variant:p.Q86del1
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RNASEH1

NM_002936.6:p.Q86del1

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

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