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Q30435992-52EA9D44-DDD4-4CE7-ADC0-3B8B72BB338B
Q30435992-52EA9D44-DDD4-4CE7-ADC0-3B8B72BB338B
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Statement
http://www.wikidata.org/entity/statement/Q30435992-52EA9D44-DDD4-4CE7-ADC0-3B8B72BB338B
Age-Related Hearing Impairment (ARHI) associated with GJB2 single mutation IVS1+1G>A in the Yakut population isolate in Eastern Siberia.
P2860
Q30435992-52EA9D44-DDD4-4CE7-ADC0-3B8B72BB338B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30435992-52EA9D44-DDD4-4CE7-ADC0-3B8B72BB338B
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wasDerivedFrom
e9eb61d4c8f1df777e53a10d93f6c87b6d76307e
P2860
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.