Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_assertion> ?p ?o ?g. }
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- NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_assertion type Assertion NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_head.
- NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_assertion description "[Here we report a Japanese patient with CPHD (GH, PRL, TSH, LH, FSH, and ACTH deficiency) due to a novel missense mutation (P366T) of the LHX 4 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_provenance.
- NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_assertion evidence source_evidence_literature NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_provenance.
- NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_assertion SIO_000772 17527005 NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_provenance.
- NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_assertion wasDerivedFrom befree-2016 NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_provenance.
- NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_assertion wasGeneratedBy ECO_0000203 NP611925.RA0PQ0AFLW_qJUThqmHkn2q_0yNKuBWVgZP_piSv_ckRI130_provenance.