Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_assertion> ?p ?o ?g. }
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- NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_assertion type Assertion NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_head.
- NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_assertion description "[Here, we describe 12 novel patients that carry MID1 mutations emphasizing that laryngo-tracheo-esophageal defects are very common in OS patients and, together with hypertelorism and hypospadias, are the most frequent findings among the full spectrum of OS clinical manifestations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_provenance.
- NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_assertion evidence source_evidence_literature NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_provenance.
- NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_assertion SIO_000772 23791568 NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_provenance.
- NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_assertion wasDerivedFrom befree-2016 NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_provenance.
- NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_assertion wasGeneratedBy ECO_0000203 NP1087980.RA-SsTkjzgXrgZAUm_aiwzS17MYoQ_Ytq3Acjb5ExEN-k130_provenance.