Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.F306S
Back to variants list

GALNS

NM_000512.5:p.F306S

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

34387910 (PubMed )
Supplement: HUMU-42-1384-s001.xlsx › TableS2_All_variants

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

Molecular genetic assay of mucopolysaccharidosis IVA in South China.

He D et al.

Gene, 2013

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."