Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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." provenance.
- 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.