Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_assertion> ?p ?o ?g. }
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- NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_assertion type Assertion NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_head.
- NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_assertion description "[Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in all ethnic groups.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_provenance.
- NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_assertion evidence source_evidence_literature NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_provenance.
- NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_assertion SIO_000772 10721668 NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_provenance.
- NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_assertion wasDerivedFrom befree-20140225 NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_provenance.
- NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_assertion wasGeneratedBy ECO_0000203 NP184646.RAurI-PIBpKtsaxInO5riZ3b8dSU5Zwj6JmcxJG3hmD0o130_provenance.