Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A2
Variant:p.A395V
Back to variants list

SLC26A2

NM_000112.4:p.A395V

Associated Papers

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation.

Silveira C et al.

Molecular Syndromology, 2023

Alteration of proteoglycan sulfation affects bone growth and remodeling.

Gualeni B et al.

Bone, 2013

Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling.

Gualeni B et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2010

Dysplastic histogenesis of cartilage growth plate by alteration of sulphation pathway: a transgenic model.

Cornaglia AI et al.

Connective Tissue Research, 2009

A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.

Forlino A et al.

Human Molecular Genetics, 2005

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."