Varaico: Literature-Extracted Genetic Variants

Gene:TDP1
Variant:p.H478Y
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TDP1

NM_018319.4:p.H478Y

Associated Papers

A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.

Ahmad R et al.

Neurogenetics, 2025

Genetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review.

Mohammadi M et al.

Pediatric Neurology, 2025

Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1).

Ahmad R et al.

Molecular Biology Reports, 2024

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