Associated Papers
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM6_ESM.xlsx › Sheet1
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A
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
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table20.xlsx › SI_Table_20
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
Ballhausen D et al.
Journal of Medical Genetics, 2003
Select a paper to view details