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. 2011 Sep 15;6(9):e24000. doi: 10.1371/journal.pone.0024000

Table 1. Probable-pathogenic variants of OTOF identified in 76 patients.

Location Nucleotide change Codon change Occurrence in the present work Occurrence in control References
Exon 12 c.1102G>A p.G368R 1/76 0/105 Present work
Exon 12 c.1194T>A p.D398E 1/76 0/105 [16]
Exon 18 c.2180A>G p.N727S 1/76 0/105 Present work
Intron 28 c.3570+2T>C Splice site 1/76 0/105 Present work
Intron 32 c.4023+1G>A Splice site 1/76 0/105 Present work
Exon 40 C.5026C>T p.R1676C 1/76 0/105 Present work