Matches in Nanopublications for { ?s ?p "[Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion description "[Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_provenance.
- NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_assertion description "[Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP678203.RAJv0Q8CGGez26TtwnJURwSEiWz_IMrBwx2gugB5Xh2lM130_provenance.