Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.T271M
Back to variants list

SGSH

NM_000199.5:p.T271M

Associated Papers

Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.

Kim MS et al.

Journal of Personalized Medicine, 2022

Clinical, biochemical and molecular features of Iranian families with mucopolysaccharidosis: A case series.

Yassaee VR et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).

Ugrinov KG et al.

Plos One, 2015

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."