Varaico: Literature-Extracted Genetic Variants

Gene:DEGS1
Variant:p.Y201C
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DEGS1

NM_003676.4:p.Y201C

Associated Papers

Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.

Dali CÍ et al.

Annals of Clinical and Translational Neurology, 2015

Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis.

Bertelli M et al.

Panminerva Medica, 2006

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.

Bertelli M et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2006

Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum.

Poeppel P et al.

The Febs Journal, 2005

Identification of seven novel mutations associated with metachromatic leukodystrophy.

Barth ML et al.

Human Mutation, 1995

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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."