Varaico: Literature-Extracted Genetic Variants

Gene:SPG11
Variant:p.A59V
Back to variants list

SPG11

NM_025137.4:p.A59V

Associated Papers

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E et al.

Brain : a Journal of Neurology, 2016

27217339 (PubMed )
Supplement: aww111_supplementary_data.zip › brain-2015-01890-File009.pdf

SPG11 Mutations Associated With a Complex Phenotype Resembling Dopa-Responsive Dystonia.

Wijemanne S et al.

Movement Disorders Clinical Practice, 2015

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

Yamashita S et al.

Translational Neurodegeneration, 2015

26213621 (PubMed )
Supplement: 40035_2015_36_MOESM1_ESM.xlsx › Sheet1

Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

Paisan-Ruiz C et al.

European Journal of Neurology, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."