KEGG   VARIANT: 3340v1
Entry
3340v1                      Variant                                
Name
NDST1 mutation
Gene
NDST1  N-deacetylase and N-sulfotransferase 1 [KO:K02576]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600853
Network
nt06029  Glycosaminoglycan biosynthesis
Disease
H00768  Autosomal recessive intellectual developmental disorder
Reference
PMID:25125150
  Authors
Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K
  Title
NDST1 missense mutations in autosomal recessive intellectual disability.
  Journal
Am J Med Genet A 164A:2753-63 (2014)
DOI:10.1002/ajmg.a.36723
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