A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population
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Congenital disorders of glycosylation type 1p, one of the N-glycosylation defects, Asparagine-dependent glycosylation 11 (ALG11-CDG, #OMIM: 613,666), is a very rare type of autosomal recessive glycosylation defect that causes multisystem involvement and freque... ...
