Matches in Nanopublications for { ?s ?p "[Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T;p.Arg211Cys and c.733G>A;p.Gly245Arg) in one patient with fatal infantile HCM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_assertion description "[Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T;p.Arg211Cys and c.733G>A;p.Gly245Arg) in one patient with fatal infantile HCM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP901503.RAemVMZhEcufp5-HQw64VOdGmQm5V45uqgoXAWt_AIlPI130_provenance.
- assertion description "[Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T;p.Arg211Cys and c.733G>A;p.Gly245Arg) in one patient with fatal infantile HCM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_assertion description "[Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T;p.Arg211Cys and c.733G>A;p.Gly245Arg) in one patient with fatal infantile HCM.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_provenance.