Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.Q153H
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FXN

NM_000144.5:p.Q153H

Associated Papers

An In Silico Analysis of Genetic Variants and Structural Modeling of the Human Frataxin Protein in Friedreich's Ataxia.

Da Conceição LMA et al.

International Journal of Molecular Sciences, 2024

38891993 (PubMed )
Supplement: ijms-25-05796-s001.zip › Table_S1.pdf

Recent Advances in the Elucidation of Frataxin Biochemical Function Open Novel Perspectives for the Treatment of Friedreich's Ataxia.

Monfort B et al.

Frontiers in Neuroscience, 2022

Clinical and Molecular Features of First Mexican Friedreich's Ataxia Patients with Compound Heterozygous FXN Mutations.

Boll MC et al.

Neurology India, 0

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