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Q36293480-680CAEE6-0B0A-4883-8DBC-A4789107EEE4
Q36293480-680CAEE6-0B0A-4883-8DBC-A4789107EEE4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36293480-680CAEE6-0B0A-4883-8DBC-A4789107EEE4
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
P2860
Q36293480-680CAEE6-0B0A-4883-8DBC-A4789107EEE4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36293480-680CAEE6-0B0A-4883-8DBC-A4789107EEE4
rank
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type
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Statement
wasDerivedFrom
56a0d19aa9f811951f67c550feb2ef9f006df021
P2860
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc