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Q49957568-9EDF646B-2501-419B-B8BA-3DAF800560FE
Q49957568-9EDF646B-2501-419B-B8BA-3DAF800560FE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q49957568-9EDF646B-2501-419B-B8BA-3DAF800560FE
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
P2860
Q49957568-9EDF646B-2501-419B-B8BA-3DAF800560FE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q49957568-9EDF646B-2501-419B-B8BA-3DAF800560FE
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Statement
wasDerivedFrom
fe60a0803a4d4bd532eec8e8d6a63741e03010ec
P2860
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.