Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_assertion> ?p ?o ?g. }
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- NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_assertion type Assertion NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_head.
- NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_assertion description "[A mutation in exon 13, which alters codon 768 from a GAG (Glu) to a GAC (Asp), was found to segregate with the FMTC phenotype in this family but not with the adrenal medullary hyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_provenance.
- NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_assertion evidence source_evidence_literature NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_provenance.
- NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_assertion SIO_000772 9111992 NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_provenance.
- NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_assertion wasDerivedFrom befree-2016 NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_provenance.
- NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_assertion wasGeneratedBy ECO_0000203 NP1371034.RADxY8k60uxcnlcUCGqtfH4xPeqPzKPhJhWdGzHF64Bwo130_provenance.