Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.R345L
Back to variants list

SUMF1

NM_182760.4:p.R345L

Associated Papers

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.

Sheth J et al.

Bmc Pediatrics, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."