Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.V361fs
Back to variants list

SGSH

NM_000199.5:p.V361fs

Associated Papers

Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.

Fateen E et al.

Orphanet Journal of Rare Diseases, 2025

The Role of the Gut Microbiota in Sanfilippo Syndrome's Physiopathology: An Approach in Two Affected Siblings.

Barbero-Herranz R et al.

International Journal of Molecular Sciences, 2024

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Zanetti A et al.

European Journal of Pediatrics, 2019

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."