Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_assertion> ?p ?o ?g. }
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- NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_assertion type Assertion NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_head.
- NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_assertion wasGeneratedBy ECO_0000203 NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_provenance.
- NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_assertion wasDerivedFrom befree-20140225 NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_provenance.
- NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_assertion SIO_000772 22784463 NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_provenance.
- NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_assertion evidence source_evidence_literature NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_provenance.
- NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_assertion description "[Mutations in the thyroglobulin (TG) gene, which has an estimated incidence of approximately 1 in 100,000 new-borns, cause autosomal recessive congenital hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP216908.RAVbugRAbswBPsGmDpdnm5A4KOeju6g9VS9M7WmUN6m2c130_provenance.