awgldk
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Triples
Insights
Schema
BETA
Class frequency
Class hierarchy
SPARQL
Graphs
1
Q41678790-DFA103C2-97B9-434D-8101-DD1E9208FCC5
Q41678790-DFA103C2-97B9-434D-8101-DD1E9208FCC5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41678790-DFA103C2-97B9-434D-8101-DD1E9208FCC5
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.
P2860
Q41678790-DFA103C2-97B9-434D-8101-DD1E9208FCC5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41678790-DFA103C2-97B9-434D-8101-DD1E9208FCC5
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
890b95ac870a0be377bba26d780117939135a691
P2860
Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34