Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.E350G
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SULF1

NM_001128205.2:p.E350G

Associated Papers

Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.

Meneghini V et al.

Stem Cells Translational Medicine, 2017

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.

Ben Halim N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2016

Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status.

Tanner AK et al.

The Journal of Molecular Diagnostics : Jmd, 2014

Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.

Shukla P et al.

Journal of the Neurological Sciences, 2011

An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.

Tinsa F et al.

Journal of Child Neurology, 2010

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.

Regis S et al.

Molecular Genetics and Metabolism, 0

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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."