Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion> ?p ?o ?g. }
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- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion type Assertion NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_head.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion description "[A 28 year old primigravida was referred to us at 17 weeks for counselling with an undiagnosed skeletal dysplasia with specific skeletal anomalies suggesting the collagen 2 disorder, spondyloperipheral dysplasia (SPD; MIM 156550).She was counselled about the probability of dominant inheritance and was offered a prenatal diagnosis by sonography.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion evidence source_evidence_literature NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion SIO_000772 21356074 NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion wasDerivedFrom befree-20140225 NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.
- NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_assertion wasGeneratedBy ECO_0000203 NP745301.RAlrkJ14srC5H_sAKjWcGG7WSMfUY5hgSPeMOugQc3oHk130_provenance.