Matches in Nanopublications for { ?s ?p "[Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- assertion description "[Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP464173.RAxKLHNpanQt4D-nArZRukdBzfhpL8Dar_VuFso7pGZqA130_assertion description "[Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP464173.RAxKLHNpanQt4D-nArZRukdBzfhpL8Dar_VuFso7pGZqA130_provenance.
- NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_assertion description "[Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1042978.RAeYuedrgfKYwtwJnLp2hIlxwjgos9w8K_gHOXTy9veVo130_provenance.
- NP234866.RAp9L6ASuZ9AU1yNhhb7CxmTjkgVZO2pIDSJfxKAnROAk130_assertion description "[Using a combination of homozygosity mapping, exome sequencing, and Sanger sequencing, we identified homozygosity for one splice-site and two missense mutations in the gene encoding the A3 isoform of the aldehyde dehydrogenase 1 (ALDH1A3) in three consanguineous families segregating A/M with occasional orbital cystic, neurological, and cardiac anomalies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP234866.RAp9L6ASuZ9AU1yNhhb7CxmTjkgVZO2pIDSJfxKAnROAk130_provenance.