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Journal of Medical Genetics|September 24, 2011
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie M Schultz, Rashid Bhatti, Anne C Madeo, et al.American Journal of Human Genetics|April 2, 2013
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseEmma M Jenkinson, Atteeq U Rehman, Tom Walsh, et al.Pageof 2