Varaico: Literature-Extracted Genetic Variants

Gene:TOMM70
Variant:p.A582V
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TOMM70

NM_014820.5:p.A582V

Associated Papers

Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Liu ZX et al.

Jama Network Open, 2022

36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S2

Molecular Insights into Mitochondrial Protein Translocation and Human Disease.

Ruiz-Pesini E et al.

Genes, 2021

Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer.

Palmer CS et al.

Febs Letters, 2021

Mutations in Hsp90 Cochaperones Result in a Wide Variety of Human Disorders.

Johnson JL

Frontiers in Molecular Biosciences, 2021

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment.

Dutta D et al.

Human Molecular Genetics, 2020

Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay.

Wei X et al.

Journal of Human Genetics, 2020

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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."