Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_assertion> ?p ?o ?g. }
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- NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_assertion type Assertion NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_head.
- NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_assertion description "[Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_provenance.
- NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_assertion evidence source_evidence_literature NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_provenance.
- NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_assertion SIO_000772 9486973 NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_provenance.
- NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_assertion wasDerivedFrom befree-2016 NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_provenance.
- NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_assertion wasGeneratedBy ECO_0000203 NP1389748.RAQzZ3cyJIV0smAq2GUtzn_dfs-jLl960S-69vGKReG8s130_provenance.