Varaico: Literature-Extracted Genetic Variants

Gene:FA2H
Variant:p.Y34*
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FA2H

NM_024306.5:p.Y34*

Associated Papers

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

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

Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients.

Novis LE et al.

Parkinsonism & Related Disorders, 2024

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