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Q46379359-40955E7D-94C9-4D8D-92CB-38E35620573D
Q46379359-40955E7D-94C9-4D8D-92CB-38E35620573D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46379359-40955E7D-94C9-4D8D-92CB-38E35620573D
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
P2860
Q46379359-40955E7D-94C9-4D8D-92CB-38E35620573D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46379359-40955E7D-94C9-4D8D-92CB-38E35620573D
rank
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Statement
wasDerivedFrom
aeb515755302e8c651ab743984c573022eb604f7
P2860
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.