Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_assertion> ?p ?o ?g. }
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- NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_assertion type Assertion NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_head.
- NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_assertion description "[A heterozygous nonsense mutation (Tyr145Stop) corresponding to a T-to-A transition at nucleotide position 435 in exon 3 of the MPZ gene was identified in Charcot-Marie-Tooth disease type 1B patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_provenance.
- NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_assertion evidence source_evidence_literature NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_provenance.
- NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_assertion SIO_000772 18663734 NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_provenance.
- NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_assertion wasDerivedFrom lhgdn-20090331 NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_provenance.
- NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_assertion wasGeneratedBy ECO_0000203 NP240455.RAHBWPrN0AKTKyiEGEig3q8CdB1KR5Cp7QQwDoQyPJldo130_provenance.