Matches in Nanopublications for { ?s ?p "[In affected individuals with PLACK syndrome from three families of different ethnicities, we identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG) in CAST, all of which were predicted to encode truncated proteins (p.Ile203Asnfs?8, p.Lys142?, and p.Val584Trpfs?37).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
Showing items 1 to 1 of
1
with 100 items per page.
- assertion description "[In affected individuals with PLACK syndrome from three families of different ethnicities, we identified homozygous mutations (c.607dup, c.424A>T, and c.1750delG) in CAST, all of which were predicted to encode truncated proteins (p.Ile203Asnfs?8, p.Lys142?, and p.Val584Trpfs?37).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.