Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.E112delFs
Back to variants list

GALNS

NM_000512.5:p.E112delFs

Associated Papers

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Zanetti A et al.

Human Mutation, 2021

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.

Morrone A et al.

Human Mutation, 2014

25137622 (PubMed )
Supplement: humu0035-1271-sd1.pdf

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

Tomatsu S et al.

Human Mutation, 2005

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Dũng VC et al.

Molecular Genetics and Metabolism, 0

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."