Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.E307K
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SULF1

NM_001128205.2:p.E307K

Associated Papers

Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu→Lys, p.318Trp→Cys) arylsulfatase A mutations.

Özkan A et al.

Intractable & Rare Diseases Research, 2016

Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.

Groeschel S et al.

Neurology, 2012

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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."