Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_assertion> ?p ?o ?g. }
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- NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_assertion type Assertion NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_head.
- NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_assertion description "[Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_provenance.
- NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_assertion evidence source_evidence_literature NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_provenance.
- NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_assertion SIO_000772 16801042 NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_provenance.
- NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_assertion wasDerivedFrom befree-2016 NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_provenance.
- NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_assertion wasGeneratedBy ECO_0000203 NP556575.RAcZRgjcs1xJyA5FInvYkQ4_EhgWEOiGN6TLnlEiqmN5A130_provenance.