Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion> ?p ?o ?g. }
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- NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion type Assertion NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_head.
- 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.
- NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion evidence source_evidence_literature NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_provenance.
- NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion SIO_000772 16098078 NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_provenance.
- NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion wasDerivedFrom befree-20140225 NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_provenance.
- NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_assertion wasGeneratedBy ECO_0000203 NP420682.RA_nhMVQXU8_ZYi_5HDb0WWofSmV-Unt8QlitXgxGxNJw130_provenance.