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http://purl.uniprot.org/SHA-384/B14656A565A3941989999446550E9A9060568B2C1AAA440986C36A079DB73209FCCAE7CD97630D7DCD44CFBD7D100B9Ehttp://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/B14656A565A3941989999446550E9A9060568B2C1AAA440986C36A079DB73209FCCAE7CD97630D7DCD44CFBD7D100B9Ehttp://www.w3.org/2000/01/rdf-schema#comment"This is the second reported mutation in the LOXHD1 gene and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community; A founder mutation R1572X in the LOXHD1 causes autosomal recessive hearing loss in Ashkenazi Jews"xsd:string
http://purl.uniprot.org/uniprot/#_4004A5F8689E709BA1A6262BFA4154C96E9766D4683252347AB63F18A210E8490F3B99A441B9A725D661D348409D33D5http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/B14656A565A3941989999446550E9A9060568B2C1AAA440986C36A079DB73209FCCAE7CD97630D7DCD44CFBD7D100B9E
http://purl.uniprot.org/uniprot/Q8IVV2http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/B14656A565A3941989999446550E9A9060568B2C1AAA440986C36A079DB73209FCCAE7CD97630D7DCD44CFBD7D100B9E
http://purl.uniprot.org/uniprot/#_Q8IVV2-mappedCitation-21465660http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/B14656A565A3941989999446550E9A9060568B2C1AAA440986C36A079DB73209FCCAE7CD97630D7DCD44CFBD7D100B9E