Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.H53insFs
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GAA

NM_000152.5:p.H53insFs

Associated Papers

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Cossée M et al.

Annals of Neurology, 1999

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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."