Varaico: Literature-Extracted Genetic Variants

Gene:IVNS1ABP
Variant:p.A20T
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IVNS1ABP

NM_006469.5:p.A20T

Associated Papers

Mitochondria in tumour progression: a network of mtDNA variants in different types of cancer.

Cavalcante GC et al.

Bmc Genomic Data, 2022

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

Association of predicted pathogenic mutations in mitochondrial ND genes with distant metastasis in NSCLC and colon cancer.

Koshikawa N et al.

Scientific Reports, 2017

29138417 (PubMed )
Supplement: 41598_2017_15592_MOESM1_ESM.pdf

Mitochondrial complex I and V gene polymorphisms associated with breast cancer in mizo-mongloid population.

Thapa S et al.

Breast Cancer (tokyo, Japan), 2016

Mitochondrial DNA nucleotide changes in primary congenital glaucoma patients.

Kumar M et al.

Molecular Vision, 2013

Mitochondrial haplogroup background may influence Southeast Asian G11778A Leber hereditary optic neuropathy.

Kaewsutthi S et al.

Investigative Ophthalmology & Visual Science, 2011

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

Ji Y et al.

American Journal of Human Genetics, 2008

Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss.

Zhao L et al.

Biochemical and Biophysical Research Communications, 2005

Natural selection shaped regional mtDNA variation in humans.

Mishmar D et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

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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."