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Q30393203-3A47BF15-F614-4168-A04A-EFA5B7E6F67F
Q30393203-3A47BF15-F614-4168-A04A-EFA5B7E6F67F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30393203-3A47BF15-F614-4168-A04A-EFA5B7E6F67F
A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy.
P2860
Q30393203-3A47BF15-F614-4168-A04A-EFA5B7E6F67F
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30393203-3A47BF15-F614-4168-A04A-EFA5B7E6F67F
rank
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wasDerivedFrom
bbfc77a06e12da593f764cbb2d6fed7ee0e31d6e
P2860
Proline: the distribution, frequency, positioning, and common functional roles of proline and polyproline sequences in the human proteome.