Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.P377L
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SULF1

NM_001128205.2:p.P377L

Associated Papers

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

Groeschel S et al.

Neurology, 2012

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 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients.

Gort L et al.

Human Mutation, 1999

Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.

Zlotogora J et al.

Human Mutation, 1995

Molecular genetics of metachromatic leukodystrophy.

Gieselmann V et al.

Human Mutation, 1994

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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."