Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion> ?p ?o ?g. }
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- NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion type Assertion NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_head.
- NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion description "[Highlights of the efforts in the past year include the identification of mutations in an epidermal transglutaminase gene in lamellar ichthyosis as well as mutations in an additional five keratin genes causing four different abnormal phenotypes, and mutations in beta 4 integrin and bullous pemphigoid antigen 2 genes in junctional epidermolysis bullosa and in the p16NK-4a gene in 50% of kindreds with familial melanoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_provenance.
- NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion evidence source_evidence_literature NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_provenance.
- NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion SIO_000772 8791519 NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_provenance.
- NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion wasDerivedFrom befree-2016 NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_provenance.
- NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_assertion wasGeneratedBy ECO_0000203 NP1356905.RADGV5ZK0sFQt6VMJW5eDedmgVy9X0RtnQk7gA5i1kiGE130_provenance.