Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_assertion> ?p ?o ?g. }
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- NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_assertion type Assertion NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_head.
- NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_assertion description "[The X-linked recessive form of chondrodysplasia punctata, characterized by chondrodysplasia and punctate calcification of cartilage, is caused by a defect in the vitamin K-dependent enzyme arylsulfatase E. We herein describe a male infant with chondrodysplasia punctata and stenosis and calcification of the entire trachea and main bronchi.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_provenance.
- NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_assertion evidence source_evidence_literature NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_provenance.
- NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_assertion SIO_000772 15611404 NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_provenance.
- NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_assertion wasDerivedFrom befree-20140225 NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_provenance.
- NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_assertion wasGeneratedBy ECO_0000203 NP440997.RA0XmzErAY3T7oesxRyaXMiVSoJagbbR7qvFxlOoijG28130_provenance.