Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_assertion> ?p ?o ?g. }
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- NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_assertion type Assertion NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_head.
- NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_assertion description "[Exome sequencing analysis of over 2,000 children with complex malformations of cortical development identified five independent (four homozygous and one compound heterozygous) deleterious mutations in KATNB1, encoding the regulatory subunit of the microtubule-severing enzyme Katanin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_provenance.
- NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_assertion evidence source_evidence_literature NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_provenance.
- NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_assertion SIO_000772 25521378 NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_provenance.
- NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_assertion wasDerivedFrom befree-2016 NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_provenance.
- NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_assertion wasGeneratedBy ECO_0000203 NP1249184.RAee6W0ISK972Xm4iNlqZ_axR4dATnLe-870Dj2rUF5vk130_provenance.