Matches in Nanopublications for { ?s ?p "[We conclude that CCMS is due to heterozygous mutations in SNRPB, enhancing inclusion of a SNRPB PTC-introducing alternative exon, and show that this developmental disease is caused by defects in the splicing machinery.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_assertion description "[We conclude that CCMS is due to heterozygous mutations in SNRPB, enhancing inclusion of a SNRPB PTC-introducing alternative exon, and show that this developmental disease is caused by defects in the splicing machinery.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1248043.RA5RbX73Jj2bjJ6snLGRcWADyUXRoJK1Bucke2VsxQWq4130_provenance.