Varaico: Literature-Extracted Genetic Variants

Gene:PRKRA
Variant:p.H89delFs
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PRKRA

NM_003690.5:p.H89delFs

Associated Papers

A novel presentation of DYT 16: acute onset in infancy and association with MRI abnormalities.

Lemmon ME et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Recent advances in the molecular pathogenesis of dystonia-plus syndromes and heredodegenerative dystonias.

Casper C et al.

Current Neuropharmacology, 2013

Molecular pathways in dystonia.

Bragg DC et al.

Neurobiology of Disease, 2011

[Monogenetic dystonia: revisiting the dopaminergic hypothesis].

Blanchard A et al.

Revue Neurologique, 2010

The monogenic primary dystonias.

Müller U

Brain : a Journal of Neurology, 2009

A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient.

Seibler P et al.

The Lancet. Neurology, 2008

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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."