Matches in Nanopublications for { ?s ?p "[This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP231213.RAtNVpSjrlny_Js9HXoxCvcS9jvO_1R_tAS-3YPNgcSog130_assertion description "[This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP231213.RAtNVpSjrlny_Js9HXoxCvcS9jvO_1R_tAS-3YPNgcSog130_provenance.
- NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_assertion description "[This paper reports the clinical and metabolic findings in two sibling sisters born with fetal hydrops and eventually found to have deficient S-adenosylhomocysteine hydrolase (AHCY) activity due to compound heterozygosity for two novel mutations, c.145C>T; p.Arg49Cys and c.257A>G; p.Asp86Gly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP840188.RAvGSXRE9Hkh9mHdpbqeLd_mzDW6_05aPvC2ypco9lZ2c130_provenance.