Defective SLC35D1 causes SCHBCKD

authored
created [InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
crossReference
dbId 5579020
disease
displayName Defective SLC35D1 causes SCHBCKD
edited
eventOf
hasDiagram true
hasEHLD false
hasEvent
isInDisease true
isInferred false
lastUpdatedDate 2019-03-25
literatureReference
maxDepth 2
modified [InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name
  • Defective SLC35D1 causes SCHBCKD
  • Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD)
normalPathway [Pathway:R-HSA-156580] Phase II - Conjugation of compounds
releaseDate 2014-12-11
reviewStatus [ReviewStatus:9821382] five stars
reviewed
schemaClass Pathway
species
stId R-HSA-5579020
summation
updateTrackers
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