Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_assertion> ?p ?o ?g. }
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- NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_assertion type Assertion NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_head.
- NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_assertion description "[In addition, we have detected a heterozygous transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar cataracts in a Japanese family that was predicted to result in the missense substitution of lysine for a conserved glutamic acid residue at codon 161 (p.E161K).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_provenance.
- NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_assertion evidence source_evidence_literature NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_provenance.
- NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_assertion SIO_000772 17701905 NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_provenance.
- NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_assertion wasDerivedFrom befree-20140225 NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_provenance.
- NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_assertion wasGeneratedBy ECO_0000203 NP805476.RA4uINKaPd9lyh5GfDMHLNY0tO1mG0LbAuHklHQyOUtK4130_provenance.