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Q34191602-FDDD60B9-B18E-4BCA-8669-E5BD76C5D74C
Q34191602-FDDD60B9-B18E-4BCA-8669-E5BD76C5D74C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34191602-FDDD60B9-B18E-4BCA-8669-E5BD76C5D74C
Otoferlin is a calcium sensor that directly regulates SNARE-mediated membrane fusion.
P2860
Q34191602-FDDD60B9-B18E-4BCA-8669-E5BD76C5D74C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34191602-FDDD60B9-B18E-4BCA-8669-E5BD76C5D74C
rank
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wasDerivedFrom
a482accf8da36ff8aa2cdab4f86bf49e5d3ba297
P2860
Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness