Varaico: Literature-Extracted Genetic Variants

Gene:PDYN
Variant:p.L6L
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PDYN

NM_024411.5:p.L6L

Associated Papers

Clinical and genetic characterization of 16q-linked autosomal dominant spinocerebellar ataxia in South Kyushu, Japan.

Hirano R et al.

Journal of Human Genetics, 2009

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.

Cagnoli C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2007

Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.

Amino T et al.

Journal of Human Genetics, 2007

Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.

Wieczorek S et al.

Journal of Human Genetics, 2006

A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.

Ohata T et al.

Journal of Human Genetics, 2006

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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."