Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_assertion type Assertion NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_head.
- NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_assertion description "[An Arg345Trp (R345W) mutation in the last canonical calcium-binding epidermal growth factor (cbEGF) domain of fibulin-3 (F3) causes the rare macular dystrophy, Malattia Leventinese (ML).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_provenance.
- NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_assertion evidence source_evidence_literature NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_provenance.
- NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_assertion SIO_000772 25481286 NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_provenance.
- NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_assertion wasDerivedFrom befree-2016 NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_provenance.
- NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_assertion wasGeneratedBy ECO_0000203 NP1245436.RAGRccCkX8_F0lbN08ZNWVgXo-7obelImw5bRN0hNwie4130_provenance.