Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)

authored
created [InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
crossReference
dbId 5619054
disease
displayName Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
edited
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hasDiagram true
hasEHLD false
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isInDisease true
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lastUpdatedDate 2019-03-25
literatureReference
maxDepth 2
modified [InstanceEdit:12819426] Weiser, Joel, 2026-02-23
name
  • Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA)
normalPathway [Pathway:R-HSA-9958790] SLC-mediated transport of inorganic anions
releaseDate 2015-09-22
reviewStatus [ReviewStatus:9821382] five stars
reviewed
schemaClass Pathway
species
stId R-HSA-5619054
summation
updateTrackers
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