Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.H605fs
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ATM

NM_000051.4:p.H605fs

Associated Papers

FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland.

Kytövuori L et al.

Parkinsonism & Related Disorders, 2025

Molecular epidemiology of hereditary ataxia in Finland.

Lipponen J et al.

Bmc Neurology, 2021

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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."