Associated Papers
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.
Smyk M et al.
Genes, 2023
36980952 (PubMed )
Supplement: genes-14-00680-s001.zip › Supplementary_Table_S5.xlsx › Arkusz1
Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype.
Stenfelt L et al.
Biochemistry and Biophysics Reports, 2019
31367682 (PubMed )
Supplement: mmc1.pdf
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