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Q35220720-2BE4406D-C0F1-4CBF-AE16-45A345526B27
Q35220720-2BE4406D-C0F1-4CBF-AE16-45A345526B27
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35220720-2BE4406D-C0F1-4CBF-AE16-45A345526B27
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.
P2860
Q35220720-2BE4406D-C0F1-4CBF-AE16-45A345526B27
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35220720-2BE4406D-C0F1-4CBF-AE16-45A345526B27
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
8a6fcfcddc6213f76f78958290e2399f675257b2
P2860
How to find and diagnose a CDG due to defective N-glycosylation.