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Q41678790-3E001265-26F1-42B4-A534-70DA23BC74AE
Q41678790-3E001265-26F1-42B4-A534-70DA23BC74AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41678790-3E001265-26F1-42B4-A534-70DA23BC74AE
Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness.
P2093
Q41678790-3E001265-26F1-42B4-A534-70DA23BC74AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41678790-3E001265-26F1-42B4-A534-70DA23BC74AE
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
52ac517824778ba12582c7ce513cdae095df86d5
P1545
10
http://www.w3.org/2001/XMLSchema#string
P2093
A Sridhar
http://www.w3.org/2001/XMLSchema#string