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Q46379359-2313A3A2-AF84-44ED-B169-B9001542C6DA
Q46379359-2313A3A2-AF84-44ED-B169-B9001542C6DA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46379359-2313A3A2-AF84-44ED-B169-B9001542C6DA
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
Q46379359-2313A3A2-AF84-44ED-B169-B9001542C6DA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46379359-2313A3A2-AF84-44ED-B169-B9001542C6DA
rank
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type
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Statement
wasDerivedFrom
aeb515755302e8c651ab743984c573022eb604f7
P2860
High prevalence of the IVS 1 + 1 G to A/GJB2 mutation among Czech hearing impaired patients with monoallelic mutation in the coding region of GJB2.