Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.G45R
Back to variants list

FA2H

NM_024306.5:p.G45R

Associated Papers

Disrupted Myelination in FAHN: Insights from a Patient-Specific hiPSC Neuron-Oligodendrocyte Model.

Efendic F et al.

Cells, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG35

Generation of the human iPSC lines AKOSi011-A carrying the mutation p.Pro65Ser/p.Asp35T and AKOSi012-A, carrying the mutation p.Tyr231His, derived from FAHN patient fibroblasts.

Efendic F et al.

Stem Cell Research, 2023

Generation of the human iPSC line AKOSi010-A from fibroblasts of a female FAHN patient, carrying the compound heterozygous mutation p.Gly45Arg/p.His319Arg.

Efendic F et al.

Stem Cell Research, 2022

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."