Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.C132Y
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MFN2

NM_014874.4:p.C132Y

Associated Papers

Genotype-phenotype characteristics of Chinese Charcot-Marie-Tooth disease type 2A and related MRI features.

Xie Y et al.

Chinese Medical Journal, 2025

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.

Xie Y et al.

Journal of the Peripheral Nervous System : Jpns, 2016

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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."