Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_assertion> ?p ?o ?g. }
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- NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_assertion type Assertion NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_head.
- NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_assertion wasGeneratedBy ECO_0000203 NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_provenance.
- NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_assertion wasDerivedFrom befree-2016 NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_provenance.
- NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_assertion SIO_000772 8988167 NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_provenance.
- NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_assertion evidence source_evidence_literature NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_provenance.
- NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_assertion description "[Here, we report 21-bp insertions and nonsense mutations of the TWIST gene (S127X, E130X) in seven ACS III probands and describe impairment of head mesenchyme induction by TWIST as a novel pathophysiological mechanism in human craniosynostoses.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1365321.RAV5KE0QCw5nDzCsxCctfWz3nKzs6HHvvGQLlqKhWYQ-M130_provenance.