Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_assertion> ?p ?o ?g. }
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- NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_assertion type Assertion NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_head.
- NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_assertion description "[TPO genes of a patient with congenital goitrous hypothyroidism and her parents were directly sequenced, and two novel missense mutations (R665W and G771R) were found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_provenance.
- NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_assertion evidence source_evidence_literature NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_provenance.
- NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_assertion SIO_000772 11916616 NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_provenance.
- NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_assertion wasDerivedFrom befree-2016 NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_provenance.
- NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_assertion wasGeneratedBy ECO_0000203 NP349448.RAyt7BGOuz-4eVMmpE_E4Sqlj1ewU4teuJf_i88UmYY6k130_provenance.