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http://purl.uniprot.org/keywords/144http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Concept
http://purl.uniprot.org/keywords/144http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/keywords/622
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http://purl.uniprot.org/keywords/144http://www.w3.org/2000/01/rdf-schema#comment"Protein which, if defective, causes Charcot-Marie-Tooth disease (CMT), a heterogeneous group of hereditary motor and sensory neuropathies (HMSN) characterized by distal muscular atrophy and weakness, hollow feet, absent or diminished deep-tendon reflexes and impaired sensation. CMT is classified into two major classes. CMT type 1 includes demyelinating neuropathies that are characterized by nerve conductance velocities (NCVs) less than 38m/s and segmental demyelination and remyelination; CMT type 2 includes axonal neuropathies that are characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration."xsd:string
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http://purl.uniprot.org/keywords/144http://purl.uniprot.org/core/categoryhttp://purl.uniprot.org/keywords/9995
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