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Q24534382-63FE5CC1-078A-436E-A245-87A38976742F
Q24534382-63FE5CC1-078A-436E-A245-87A38976742F
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Statement
http://www.wikidata.org/entity/statement/Q24534382-63FE5CC1-078A-436E-A245-87A38976742F
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34
P2860
Q24534382-63FE5CC1-078A-436E-A245-87A38976742F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24534382-63FE5CC1-078A-436E-A245-87A38976742F
rank
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type
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Statement
wasDerivedFrom
5ce530211e7f2056f4c43762c2ce60639d9504bc
P2860
Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.