Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.H69Y
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FA2H

NM_024306.5:p.H69Y

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).

German A et al.

Genes, 2023

Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.

Kolarova H et al.

Ebiomedicine, 2022

35180557 (PubMed )
Supplement: mmc3.xlsx › List1

FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.

Rattay TW et al.

Brain : a Journal of Neurology, 2019

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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."