Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.R562insFs
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SPAST

NM_014946.4:p.R562insFs

Associated Papers

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

Fogli A et al.

Human Genetics, 2009

Novel human pathological mutations. Gene symbol: SPG4. Disease: spastic paraplegia, autosomal dominant.

Fogli A et al.

Human Genetics, 2009

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Fonknechten N et al.

Human Molecular Genetics, 2000

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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."