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DESCRIBE <http://purl.uniprot.org/SHA-384/5162E7F6804E04CDF55941F542AE79CEB65A28A23A03368D93244E744887399ED067B382902176DA5FF9EA6717BB44BE>
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http://purl.uniprot.org/SHA-384/5162E7F6804E04CDF55941F542AE79CEB65A28A23A03368D93244E744887399ED067B382902176DA5FF9EA6717BB44BE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5162E7F6804E04CDF55941F542AE79CEB65A28A23A03368D93244E744887399ED067B382902176DA5FF9EA6717BB44BE
http://www.w3.org/2000/01/rdf-schema#comment
"Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay."
xsd:string
http://purl.uniprot.org/uniprot/#_2E5F2511E481F2E3BD35804A5B02E494777221E3CA4BD4E7EF7387CB89B0313F262D18CBD42258B57F7C30E29052983C
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5162E7F6804E04CDF55941F542AE79CEB65A28A23A03368D93244E744887399ED067B382902176DA5FF9EA6717BB44BE
http://purl.uniprot.org/uniprot/B0YIW5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5162E7F6804E04CDF55941F542AE79CEB65A28A23A03368D93244E744887399ED067B382902176DA5FF9EA6717BB44BE
http://purl.uniprot.org/uniprot/#_B0YIW5-mappedCitation-33154040
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5162E7F6804E04CDF55941F542AE79CEB65A28A23A03368D93244E744887399ED067B382902176DA5FF9EA6717BB44BE