Varaico: Literature-Extracted Genetic Variants

Gene:TOP1MT
Variant:p.V256I
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TOP1MT

NM_052963.3:p.V256I

Associated Papers

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

Erdinc D et al.

Embo Molecular Medicine, 2023

37013609 (PubMed )
Supplement: EMMM-15-e16775-s006.pdf

Functional characterization of two variants of mitochondrial topoisomerase TOP1MT that impact regulation of the mitochondrial genome.

Al Khatib I et al.

The Journal of Biological Chemistry, 2022

Distribution bias and biochemical characterization of TOP1MT single nucleotide variants.

Zhang H et al.

Scientific Reports, 2017

Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

Wang W et al.

Nucleic Acids Research, 2011

20843780 (PubMed )
Supplement: supp_gkq750_NAR-WangWetal-SuppTable-6.xls › gene_snp_analysis4
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