Varaico: Literature-Extracted Genetic Variants

Gene:ZFP36
Variant:p.D171_L172insFs
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ZFP36

NM_003407.5:p.D171_L172insFs

Associated Papers

First case of ataxia with isolated vitamin E deficiency in the Netherlands.

Ponten SC et al.

Parkinsonism & Related Disorders, 2007

Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families.

Benomar A et al.

Journal of the Neurological Sciences, 2002

The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias.

Di Donato S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2001

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."