Varaico: Literature-Extracted Genetic Variants

Gene:SULF2
Variant:p.K32K
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SULF2

NM_001387048.1:p.K32K

Associated Papers

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

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

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

Tinsa F et al.

Journal of Child Neurology, 2010

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.

Regis S et al.

Human Genetics, 2002

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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."