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DESCRIBE <http://purl.uniprot.org/SHA-384/5F59C362BA58ADD576D994B28BBF579551BC1591AC8DF96D5D2DB996F71CBB793D094BD3F858EABB5805FDE540F11C92>
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http://purl.uniprot.org/SHA-384/5F59C362BA58ADD576D994B28BBF579551BC1591AC8DF96D5D2DB996F71CBB793D094BD3F858EABB5805FDE540F11C92
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5F59C362BA58ADD576D994B28BBF579551BC1591AC8DF96D5D2DB996F71CBB793D094BD3F858EABB5805FDE540F11C92
http://www.w3.org/2000/01/rdf-schema#comment
"Four rare missense variants were identified (ACTBL2 rs73757391 (5q11.2) BTD rs200337373 (3p25.1) KRT13 rs150321809 (17q21.2) and MC2R rs104894658 (18p11.21)) but only MC2R rs104894668 had a large effect size (OR = 9.66)."
xsd:string
http://purl.uniprot.org/uniprot/#_7383855F733C8E0E800E20C140AAFF3376DE47F5BCB1C840B882D11379F64B91586CDDCCB018398B599D9DE8C0EEF5FD
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5F59C362BA58ADD576D994B28BBF579551BC1591AC8DF96D5D2DB996F71CBB793D094BD3F858EABB5805FDE540F11C92
http://purl.uniprot.org/uniprot/Q562R1
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5F59C362BA58ADD576D994B28BBF579551BC1591AC8DF96D5D2DB996F71CBB793D094BD3F858EABB5805FDE540F11C92
http://purl.uniprot.org/uniprot/#_Q562R1-mappedCitation-27378695
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5F59C362BA58ADD576D994B28BBF579551BC1591AC8DF96D5D2DB996F71CBB793D094BD3F858EABB5805FDE540F11C92