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DESCRIBE <http://purl.uniprot.org/SHA-384/D5B220CAA096671A4D10B29C632600BBE8F3D6CFBCF61F5B6D5BDB5A24BEBC2214741BED02359D2D3963FB7E87F43D34>
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http://purl.uniprot.org/SHA-384/D5B220CAA096671A4D10B29C632600BBE8F3D6CFBCF61F5B6D5BDB5A24BEBC2214741BED02359D2D3963FB7E87F43D34
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D5B220CAA096671A4D10B29C632600BBE8F3D6CFBCF61F5B6D5BDB5A24BEBC2214741BED02359D2D3963FB7E87F43D34
http://www.w3.org/2000/01/rdf-schema#comment
"We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in 4 members of a Chinese autosomal dominant Charcot-Marie-Tooth disease type 2 family"
xsd:string
http://purl.uniprot.org/uniprot/#_A8C96AC6BDBF71C29C2B35583256D5CF2F4301BD560EE45957CF7E71CB78EE5D548F0E9E1496197E33BE62E98C4D0150
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/D5B220CAA096671A4D10B29C632600BBE8F3D6CFBCF61F5B6D5BDB5A24BEBC2214741BED02359D2D3963FB7E87F43D34
http://purl.uniprot.org/uniprot/Q6UWE0
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D5B220CAA096671A4D10B29C632600BBE8F3D6CFBCF61F5B6D5BDB5A24BEBC2214741BED02359D2D3963FB7E87F43D34
http://purl.uniprot.org/uniprot/#_Q6UWE0-mappedCitation-29341362
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/D5B220CAA096671A4D10B29C632600BBE8F3D6CFBCF61F5B6D5BDB5A24BEBC2214741BED02359D2D3963FB7E87F43D34