Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_assertion> ?p ?o ?g. }
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- NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_assertion type Assertion NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_head.
- NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_assertion description "[Hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome (MIM 146255) is a rare autosomal dominant disorder caused by mutations in the gene encoding GATA3, a dual zinc-finger transcription factor involved in vertebrate embryonic development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_provenance.
- NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_assertion evidence source_evidence_literature NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_provenance.
- NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_assertion SIO_000772 23203342 NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_provenance.
- NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_assertion wasDerivedFrom befree-2016 NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_provenance.
- NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_assertion wasGeneratedBy ECO_0000203 NP1032841.RAZFwTRNh4n2crQbnHaWTNikQ6nJXv3IbCDkDkxB0HWyk130_provenance.