Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.H41L
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IVNS1ABP

NM_006469.5:p.H41L

Associated Papers

Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington's disease.

Wang Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34301881 (PubMed )
Supplement: pnas.2014610118.sd01.xlsx › pathogenic_mtDNA_heteroplasmies

Mitochondrial Dysfunctions in Type I Endometrial Carcinoma: Exploring Their Role in Oncogenesis and Tumor Progression.

Musicco C et al.

International Journal of Molecular Sciences, 2018

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.

Caporali L et al.

Plos Genetics, 2018

29444077 (PubMed )
Supplement: pgen.1007210.s006.docx
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