Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.R345C
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SULF1

NM_001128205.2:p.R345C

Associated Papers

Integrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.

Arun AS et al.

The Pharmacogenomics Journal, 2025

40044654 (PubMed )
Supplement: 41397_2025_364_MOESM3_ESM.xlsx › Sheet1

Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme.

Dierks T et al.

Cell, 2005

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

Díaz-Font A 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."