JENNIFER POSEY to Congenital Disorders of Glycosylation
This is a "connection" page, showing publications JENNIFER POSEY has written about Congenital Disorders of Glycosylation.
Connection Strength
0.259
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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. J Inherit Metab Dis. 2023 11; 46(6):1195-1205.
Score: 0.211
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El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 05; 101(5-6):530-540.
Score: 0.048