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[Genetic studies of over 200 cases of Creutzfeldt-Jakob disease (CJD), Gerstmann-Str�ussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI) and kuru have brought a reliable body of evidence that the familial forms of CJD and all known cases of GSS and FFI are linked to germline mutations in the coding region of the PRNP gene on chromosome 20, either point substitutions or expansion of the number of 24-nucleotide repeat units.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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DisGeNET evidence - LITERATURE
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