Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.R735Splc
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MFN2

NM_014874.4:p.R735Splc

Associated Papers

The evaluation of targeted exome sequencing of candidate genes in a Han Chinese population with primary open-angle glaucoma.

Zhou Y et al.

Human Molecular Genetics, 2025

39776193 (PubMed )
Supplement: hmg-2024-oa-00747_supplementary_materials_ddae198.xlsx › Table_S9

Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

Brožková DŠ et al.

Molecular Medicine Reports, 2013

[MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic].

Khidiyatova IM et al.

Genetika, 2013

Phenotypic spectrum of MFN2 mutations in the Spanish population.

Casasnovas C et al.

Journal of Medical Genetics, 2010

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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."