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Q46379359-4B70E118-54E6-45A7-AC6C-2AE1F976DB28
Q46379359-4B70E118-54E6-45A7-AC6C-2AE1F976DB28
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46379359-4B70E118-54E6-45A7-AC6C-2AE1F976DB28
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
Q46379359-4B70E118-54E6-45A7-AC6C-2AE1F976DB28
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46379359-4B70E118-54E6-45A7-AC6C-2AE1F976DB28
rank
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type
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Statement
wasDerivedFrom
aeb515755302e8c651ab743984c573022eb604f7
P2860
Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.