Name: Portugese Association for CDG and other Rare Metabolic Diseases APCDG-DMR Url:
Piton A, Redin C & Mandel JL.. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing Am J Hum Genet. August 8, 2013; 93(2). 368-83. Reference Link

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