Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_assertion> ?p ?o ?g. }
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- NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_assertion type Assertion NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_head.
- NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_assertion wasGeneratedBy ECO_0000218 NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_provenance.
- NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_assertion wasDerivedFrom uniprot-20150221 NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_provenance.
- NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_assertion SIO_000772 22152678 NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_provenance.
- NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_assertion evidence source_evidence_curated NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_provenance.
- NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_assertion description "[Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3619.RATu3mTV4FfRH8ohn8pngguR4wa44mr_BSQ9CMWMF5L0k130_provenance.