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Q57455558-A440E884-97EF-4D64-AC55-58AA68929B6E
Q57455558-A440E884-97EF-4D64-AC55-58AA68929B6E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57455558-A440E884-97EF-4D64-AC55-58AA68929B6E
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
P2860
Q57455558-A440E884-97EF-4D64-AC55-58AA68929B6E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q57455558-A440E884-97EF-4D64-AC55-58AA68929B6E
rank
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wasDerivedFrom
1f0dd8b1a8af0c79b32d006a9385eccd8c45cabd
P2860
Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.