Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_assertion> ?p ?o ?g. }
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- NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_assertion type Assertion NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_head.
- NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_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." NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_provenance.
- NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_assertion evidence source_evidence_literature NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_provenance.
- NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_assertion SIO_000772 9486973 NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_provenance.
- NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_assertion wasDerivedFrom befree-2016 NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_provenance.
- NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_assertion wasGeneratedBy ECO_0000203 NP1389747.RArtFdqpZ0YDd_aiYd6MyulroNWah8DXJ7Mba44j_K8ns130_provenance.