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Q28552418-FAC4ACF2-CADF-4651-A5F0-48469B766542
Q28552418-FAC4ACF2-CADF-4651-A5F0-48469B766542
BestRank
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http://www.wikidata.org/entity/statement/Q28552418-FAC4ACF2-CADF-4651-A5F0-48469B766542
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)
P2860
Q28552418-FAC4ACF2-CADF-4651-A5F0-48469B766542
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28552418-FAC4ACF2-CADF-4651-A5F0-48469B766542
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wasDerivedFrom
a88048ce7fbe49b246edf648a7e77cf5085cb622
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.