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DESCRIBE <http://purl.uniprot.org/SHA-384/1EDE0A8AA869534257AC5CFF056252173841EADE983ABCED0C6BE9CFE3F04EA659A0E071DAF239691F24BA23D240D260>
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http://purl.uniprot.org/SHA-384/1EDE0A8AA869534257AC5CFF056252173841EADE983ABCED0C6BE9CFE3F04EA659A0E071DAF239691F24BA23D240D260
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/1EDE0A8AA869534257AC5CFF056252173841EADE983ABCED0C6BE9CFE3F04EA659A0E071DAF239691F24BA23D240D260
http://www.w3.org/2000/01/rdf-schema#comment
"A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa."
xsd:string
http://purl.uniprot.org/uniprot/#_12C267F9C3623618E72FE50ED123469F76AC7B0D48586F168A4B1D3444F69841627A8A260A61796EA146898BEE321B48
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/1EDE0A8AA869534257AC5CFF056252173841EADE983ABCED0C6BE9CFE3F04EA659A0E071DAF239691F24BA23D240D260
http://purl.uniprot.org/uniprot/Q0QD38
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1EDE0A8AA869534257AC5CFF056252173841EADE983ABCED0C6BE9CFE3F04EA659A0E071DAF239691F24BA23D240D260
http://purl.uniprot.org/uniprot/#_Q0QD38-mappedCitation-33907372
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1EDE0A8AA869534257AC5CFF056252173841EADE983ABCED0C6BE9CFE3F04EA659A0E071DAF239691F24BA23D240D260