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Q35216395-47E1707B-DBC4-4D82-91FA-D00853AC02AE
Q35216395-47E1707B-DBC4-4D82-91FA-D00853AC02AE
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http://www.wikidata.org/entity/statement/Q35216395-47E1707B-DBC4-4D82-91FA-D00853AC02AE
Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.
P2860
Q35216395-47E1707B-DBC4-4D82-91FA-D00853AC02AE
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35216395-47E1707B-DBC4-4D82-91FA-D00853AC02AE
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wasDerivedFrom
7fef6f7804bffb8e93258e5849bd75c764727960
P2860
A novel COCH mutation, V104del, impairs folding of the LCCL domain of cochlin and causes progressive hearing loss.