A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation
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Autosomal recessive COG4-related congenital disorder of glycosylation [COG4-CDG(ar)] is caused by biallelic deleterious variants in COG4, which encodes a component of the conserved oligomeric Golgi complex lobe A. COG4-CDG(ar) has been described in six individ... ...
