Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.V91L
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MFN2

NM_014874.4:p.V91L

Associated Papers

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

Cakar A et al.

European Journal of Neurology, 2025

39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Ek M et al.

Frontiers in Neurology, 2023

37273706 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort.

Candayan A et al.

Neurology. Genetics, 2021

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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."