Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion> ?p ?o ?g. }
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- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion type Assertion NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_head.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion wasGeneratedBy ECO_0000203 NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion wasDerivedFrom befree-20150227 NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion SIO_000772 19473076 NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion evidence source_evidence_literature NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.
- NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_assertion description "[A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP396104.RAuNIFILGfrsMNK2crRXZkubcKPTeo6CmGxJy5g6z7aqs130_provenance.