Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.R397R
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SULF1

NM_001128205.2:p.R397R

Associated Papers

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

Zanetti A et al.

Jimd Reports, 2014

Identification, expression, and biochemical characterization of N-acetylgalactosamine-4-sulfatase mutations and relationship with clinical phenotype in MPS-VI patients.

Litjens T et al.

American Journal of Human Genetics, 1996

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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."