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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct; 16(10):751-8.
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PubMed
subject areas
Abnormalities, Multiple
Adolescent
Child, Preschool
Developmental Disabilities
Endoplasmic Reticulum-Associated Degradation
Exome
Family Health
Fatal Outcome
Female
Genome-Wide Association Study
Humans
Infant
Male
Microcephaly
Movement Disorders
Muscle Hypotonia
Mutation
Pedigree
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase
Retrospective Studies
Seizures
Sequence Analysis, DNA
Signal Transduction
Young Adult
authors with profiles
HUDA ZOGHBI
RICHARD GIBBS