Varaico: Literature-Extracted Genetic Variants

Gene:FXN
Variant:p.K171_N172insFs
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FXN

NM_000144.5:p.K171_N172insFs

Associated Papers

Autosomal recessive adult onset ataxia.

Dragašević-Mišković N et al.

Journal of Neurology, 2022

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.

Mariotti C et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2004

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families.

Cavalier L et al.

American Journal of Human Genetics, 1998

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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."