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DESCRIBE <http://purl.uniprot.org/SHA-384/4D7116B1450741C577EDFD9EBFAD6AAB4CE303BD47D9744C6D6F9D72864C898649DC7A12C3B512DA3AD84658381CB4A9>
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http://purl.uniprot.org/SHA-384/4D7116B1450741C577EDFD9EBFAD6AAB4CE303BD47D9744C6D6F9D72864C898649DC7A12C3B512DA3AD84658381CB4A9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4D7116B1450741C577EDFD9EBFAD6AAB4CE303BD47D9744C6D6F9D72864C898649DC7A12C3B512DA3AD84658381CB4A9
http://www.w3.org/2000/01/rdf-schema#comment
"A novel intron mutation in ACVRL1 gene is associated with familial hereditary hemorrhagic telangiectasia."
xsd:string
http://purl.uniprot.org/uniprot/#_D88E93819D721F8185D66AB6A30BFA9E959ECC60B366EC3F280206E693BD28C31FB0A89A21D9FBC57952316E9A2F3597
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4D7116B1450741C577EDFD9EBFAD6AAB4CE303BD47D9744C6D6F9D72864C898649DC7A12C3B512DA3AD84658381CB4A9
http://purl.uniprot.org/uniprot/D9IPD9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4D7116B1450741C577EDFD9EBFAD6AAB4CE303BD47D9744C6D6F9D72864C898649DC7A12C3B512DA3AD84658381CB4A9
http://purl.uniprot.org/uniprot/#_D9IPD9-mappedCitation-23460919
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4D7116B1450741C577EDFD9EBFAD6AAB4CE303BD47D9744C6D6F9D72864C898649DC7A12C3B512DA3AD84658381CB4A9