Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.Q754fs
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MFN2

NM_014874.4:p.Q754fs

Associated Papers

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Segur-Bailach E et al.

Journal of Clinical Medicine, 2022

35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S1.pdf

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy.

Charif M et al.

Frontiers in Neurology, 2021

33841295 (PubMed )
Supplement: Table_2.XLSX › Feuil1

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

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

Two novel cases of compound heterozygous mutations in mitofusin2: Finding out the inheritance.

Geroldi A et al.

Neuromuscular Disorders : Nmd, 2017

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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."