Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.E424Q
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SULF1

NM_001128205.2:p.E424Q

Associated Papers

Engineered arylsulfatase A with increased activity, stability and brain delivery for therapy of metachromatic leukodystrophy.

Yaghootfam C et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023

The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.

Liu X et al.

Theranostics, 2022

36168622 (PubMed )
Supplement: thnov12p6160s2.xlsx › Table_S2
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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."