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Q38845134-670ACDEF-1108-4DB9-90BF-61C91C488259
Q38845134-670ACDEF-1108-4DB9-90BF-61C91C488259
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Statement
http://www.wikidata.org/entity/statement/Q38845134-670ACDEF-1108-4DB9-90BF-61C91C488259
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
P2860
Q38845134-670ACDEF-1108-4DB9-90BF-61C91C488259
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38845134-670ACDEF-1108-4DB9-90BF-61C91C488259
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wasDerivedFrom
6aac65847ddec7f074a44e088fbe4a65d1bbea25
P2860
Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.