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DESCRIBE <http://purl.uniprot.org/SHA-384/A4708B489D922BF881E8E6E59ACC4477D0EB4C5404D5B9A6373FD616954DB04FF94D806EF831B8C66A4B107691F82B40>
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http://purl.uniprot.org/SHA-384/A4708B489D922BF881E8E6E59ACC4477D0EB4C5404D5B9A6373FD616954DB04FF94D806EF831B8C66A4B107691F82B40
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/A4708B489D922BF881E8E6E59ACC4477D0EB4C5404D5B9A6373FD616954DB04FF94D806EF831B8C66A4B107691F82B40
http://www.w3.org/2000/01/rdf-schema#comment
"EPAS1 gain-of-function mutation was identified in two patients with Chiari malformation type I in Epas1-associated syndrome."
xsd:string
http://purl.uniprot.org/uniprot/#_FC74671357823F52ABD9FF78A022CD51B2A792A00736CEB164259989F9790A3AF59B0395F890EA38010B92D905ED1194
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/A4708B489D922BF881E8E6E59ACC4477D0EB4C5404D5B9A6373FD616954DB04FF94D806EF831B8C66A4B107691F82B40
http://purl.uniprot.org/uniprot/Q53SM6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A4708B489D922BF881E8E6E59ACC4477D0EB4C5404D5B9A6373FD616954DB04FF94D806EF831B8C66A4B107691F82B40
http://purl.uniprot.org/uniprot/#_Q53SM6-mappedCitation-31185588
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/A4708B489D922BF881E8E6E59ACC4477D0EB4C5404D5B9A6373FD616954DB04FF94D806EF831B8C66A4B107691F82B40