Varaico: Literature-Extracted Genetic Variants

Gene:TMEM70
Variant:p.A34P
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TMEM70

NM_017866.6:p.A34P

Associated Papers

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › CASE_REPORT___MITNGS22_03_

Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.

Meroni M et al.

Frontiers in Nutrition, 2022

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
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