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Q24533355-1D3CAE87-E7E8-4CCB-B5F0-402EF8E52387
Q24533355-1D3CAE87-E7E8-4CCB-B5F0-402EF8E52387
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24533355-1D3CAE87-E7E8-4CCB-B5F0-402EF8E52387
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region
P2860
Q24533355-1D3CAE87-E7E8-4CCB-B5F0-402EF8E52387
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24533355-1D3CAE87-E7E8-4CCB-B5F0-402EF8E52387
rank
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type
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Statement
wasDerivedFrom
18e385741be6b286e282b227a64d519a96ac3164
P2860
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.