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DESCRIBE <http://purl.uniprot.org/SHA-384/4205C2652265DBAD42F9D35793BD4CBEE6FACEB8522B46EA7E73B98B828E6089AF471A53BCBBC02C0AE945FA483CFDBC>
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http://purl.uniprot.org/SHA-384/4205C2652265DBAD42F9D35793BD4CBEE6FACEB8522B46EA7E73B98B828E6089AF471A53BCBBC02C0AE945FA483CFDBC
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/4205C2652265DBAD42F9D35793BD4CBEE6FACEB8522B46EA7E73B98B828E6089AF471A53BCBBC02C0AE945FA483CFDBC
http://www.w3.org/2000/01/rdf-schema#comment
"Nonsense mutation (p.E145*) in PHEX is involved in X-linked dominant hypophosphatemic rickets."
xsd:string
http://purl.uniprot.org/uniprot/#_C401E9E1D0BEF75F788B9E5C66DA9DE4AE92496E8A09AF3DF847D3DF05C508FFDCBF5745C80FDE346FCF8D516774E6C2
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/4205C2652265DBAD42F9D35793BD4CBEE6FACEB8522B46EA7E73B98B828E6089AF471A53BCBBC02C0AE945FA483CFDBC
http://purl.uniprot.org/uniprot/B4DWG8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4205C2652265DBAD42F9D35793BD4CBEE6FACEB8522B46EA7E73B98B828E6089AF471A53BCBBC02C0AE945FA483CFDBC
http://purl.uniprot.org/uniprot/#_B4DWG8-mappedCitation-29858904
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/4205C2652265DBAD42F9D35793BD4CBEE6FACEB8522B46EA7E73B98B828E6089AF471A53BCBBC02C0AE945FA483CFDBC