Varaico: Literature-Extracted Genetic Variants

Gene:SUMF1
Variant:p.N259K
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SUMF1

NM_182760.4:p.N259K

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

A systematic review and meta-analysis of published cases reveals the natural disease history in multiple sulfatase deficiency.

Schlotawa L et al.

Journal of Inherited Metabolic Disease, 2020

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.

Nur BG et al.

The Turkish Journal of Pediatrics, 0

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