Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications.
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Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84
Moderate to severe prelingual hearing impairment (DFNB84) was observed in an extended consanguineous...
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