Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_assertion> ?p ?o ?g. }
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- NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_assertion type Assertion NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_head.
- NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_assertion description "[The p.A2215D thyroglobulin gene mutation leads to deficient synthesis and secretion of the mutated protein and congenital hypothyroidism with wide phenotype variation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_provenance.
- NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_assertion evidence source_evidence_curated NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_provenance.
- NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_assertion SIO_000772 19509106 NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_provenance.
- NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_assertion wasDerivedFrom uniprot-2016 NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_provenance.
- NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_assertion wasGeneratedBy ECO_0000218 NP5826.RA3xtCzoO8D4hUPk_tYTWtxbN-lt2FzNUGt_8gwCiuTBs130_provenance.