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DESCRIBE <http://purl.uniprot.org/SHA-384/A60180C4A3C74AA7967197DD70E021099655897BCD45A850CFA18FE9D6E632E447BAF1517F39259A9D6AC2F8A03081E9>
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http://purl.uniprot.org/SHA-384/A60180C4A3C74AA7967197DD70E021099655897BCD45A850CFA18FE9D6E632E447BAF1517F39259A9D6AC2F8A03081E9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/A60180C4A3C74AA7967197DD70E021099655897BCD45A850CFA18FE9D6E632E447BAF1517F39259A9D6AC2F8A03081E9
http://www.w3.org/2000/01/rdf-schema#comment
"A novel heterozygous missense mutation (Arg120Gly) in the GDAP1 gene co-segregates with the disease within the pedigree of an Italian Charcot-Marie-Tooth disease type 2 (CMT2) family."
xsd:string
http://purl.uniprot.org/uniprot/#_A79C000EAC832E50F8E7532AC5FE991C64937C3C3672F4AAC2FBAA436DECE905EA14F59511B0A16E9476BABA7A8CA398
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/A60180C4A3C74AA7967197DD70E021099655897BCD45A850CFA18FE9D6E632E447BAF1517F39259A9D6AC2F8A03081E9
http://purl.uniprot.org/uniprot/Q8TB36
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A60180C4A3C74AA7967197DD70E021099655897BCD45A850CFA18FE9D6E632E447BAF1517F39259A9D6AC2F8A03081E9
http://purl.uniprot.org/uniprot/#_Q8TB36-mappedCitation-22971097
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A60180C4A3C74AA7967197DD70E021099655897BCD45A850CFA18FE9D6E632E447BAF1517F39259A9D6AC2F8A03081E9