Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_assertion> ?p ?o ?g. }
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- NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_assertion type Assertion NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_head.
- 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.
- NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_assertion evidence source_evidence_literature NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_provenance.
- NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_assertion SIO_000772 21931170 NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_provenance.
- NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_assertion wasDerivedFrom befree-2016 NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_provenance.
- NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_assertion wasGeneratedBy ECO_0000203 NP924871.RA94Qxc8aoE-x3dFZ9mJ5bZln1uNb0ql9_7xMCD720vN4130_provenance.