Varaico: Literature-Extracted Genetic Variants

Gene:MFN2
Variant:p.H128Y
Back to variants list

MFN2

NM_014874.4:p.H128Y

Associated Papers

Advances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.

Rizzuti M et al.

Stem Cell Reports, 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

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study.

Ando M et al.

Journal of the Peripheral Nervous System : Jpns, 2017

Modeling Drug-Induced Neuropathy Using Human iPSCs for Predictive Toxicology.

Ohara R et al.

Clinical Pharmacology and Therapeutics, 2017

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.

Scherrer C et al.

Journal of Tissue Engineering, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."