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DESCRIBE <http://purl.uniprot.org/SHA-384/3E4FDCEE5117ACC46C9FC5E96BDC527EF32686538CF365D6B9AB8EC396A4F8D64EBF9E8A7BEC39DB293021B9ABA28567>
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http://purl.uniprot.org/SHA-384/3E4FDCEE5117ACC46C9FC5E96BDC527EF32686538CF365D6B9AB8EC396A4F8D64EBF9E8A7BEC39DB293021B9ABA28567
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3E4FDCEE5117ACC46C9FC5E96BDC527EF32686538CF365D6B9AB8EC396A4F8D64EBF9E8A7BEC39DB293021B9ABA28567
http://www.w3.org/2000/01/rdf-schema#comment
"Novel R645C mutation was detected in NTRK3 in 2 affected siblings with Hirschsprung disease."
xsd:string
http://purl.uniprot.org/uniprot/#_D0AEBB697B9DB0AFFEBD732B2FBF2283C5B31716D6EA3D2C02AB3AE27A339D0883A02526DD59FB2B3CF9ACBDA4BBACE2
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3E4FDCEE5117ACC46C9FC5E96BDC527EF32686538CF365D6B9AB8EC396A4F8D64EBF9E8A7BEC39DB293021B9ABA28567
http://purl.uniprot.org/uniprot/B7Z7U4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3E4FDCEE5117ACC46C9FC5E96BDC527EF32686538CF365D6B9AB8EC396A4F8D64EBF9E8A7BEC39DB293021B9ABA28567
http://purl.uniprot.org/uniprot/#_B7Z7U4-mappedCitation-19040714
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3E4FDCEE5117ACC46C9FC5E96BDC527EF32686538CF365D6B9AB8EC396A4F8D64EBF9E8A7BEC39DB293021B9ABA28567