Varaico: Literature-Extracted Genetic Variants

Gene:MGME1
Variant:p.D251N
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MGME1

NM_052865.4:p.D251N

Associated Papers

Structural basis of how MGME1 processes DNA 5' ends to maintain mitochondrial genome integrity.

Mao EYC et al.

Nucleic Acids Research, 2024

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series.

Mahjoub G et al.

Bmc Medical Genetics, 2019

31664948 (PubMed )
Supplement: 12881_2019_893_MOESM1_ESM.docx

Structural insights into DNA degradation by human mitochondrial nuclease MGME1.

Yang C et al.

Nucleic Acids Research, 2018

A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.

Garone C et al.

Journal of Child Neurology, 2017

Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels.

Szczesny RJ et al.

Nucleic Acids Research, 2013

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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."