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Q39646857-7F8CB179-A62F-4E03-AEFE-A9868F1C200A
Q39646857-7F8CB179-A62F-4E03-AEFE-A9868F1C200A
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Statement
http://www.wikidata.org/entity/statement/Q39646857-7F8CB179-A62F-4E03-AEFE-A9868F1C200A
Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.
P2860
Q39646857-7F8CB179-A62F-4E03-AEFE-A9868F1C200A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q39646857-7F8CB179-A62F-4E03-AEFE-A9868F1C200A
rank
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wasDerivedFrom
89e0731a5e4aca765d1d94d29ebeeca33c336caa
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.