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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

The newly named disease is called NGLY1 deficiency has been found in eight children with mutations in the gene encoding for N-glycanase 1, an enzyme that "recycles defective products from a cellular assembly line."

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Stories of Genome Sequencing in Medical Diagnoses

Stories and articles of the use of genome sequencing in medical diagnoses of rare diseases.  

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Profile picture of Tricia Lu

Tricia Lu