Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.R269C
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FA2H

NM_024306.5:p.R269C

Associated Papers

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.

Lee S et al.

Npj Genomic Medicine, 2025

41354729 (PubMed )
Supplement: 41525_2025_538_MOESM1_ESM.pdf

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Mari F et al.

Neurogenetics, 2018

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.

D'Amore A et al.

Frontiers in Neurology, 2018

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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."