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Q30393203-E6D87F6D-1DA6-4060-A008-6DE6128E498F
Q30393203-E6D87F6D-1DA6-4060-A008-6DE6128E498F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30393203-E6D87F6D-1DA6-4060-A008-6DE6128E498F
A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.
P2860
Q30393203-E6D87F6D-1DA6-4060-A008-6DE6128E498F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30393203-E6D87F6D-1DA6-4060-A008-6DE6128E498F
rank
NormalRank
type
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Statement
wasDerivedFrom
bbfc77a06e12da593f764cbb2d6fed7ee0e31d6e
P2860
Phosphatidylinositol 4,5-bisphosphate increases Ca2+ affinity of synaptotagmin-1 by 40-fold