Varaico: Literature-Extracted Genetic Variants

Gene:MGME1
Variant:p.T265I
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MGME1

NM_052865.4:p.T265I

Associated Papers

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.

Gupta R et al.

Nature, 2023

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans.

Gupta R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.

Kim YW et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021

33576571 (PubMed )
Supplement: ALZ-17-831-s002.xlsx › Table_S4

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.

Varga NÁ et al.

Behavioral and Brain Functions : Bbf, 2018

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW et al.

Jama, 2014

Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval.

Aldave AJ et al.

Cornea, 2009

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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."