Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_assertion> ?p ?o ?g. }
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- NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_assertion type Assertion NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_head.
- NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_assertion description "[The ZNF644 gene showed five heterozygous missense mutations (c.1106A>T, p.K369M; c.1648G>A, p.A550T; c.2014A>G, p.S672G; c.2048G>C, p.R683T, and c.2551G>C, p.D851H) in five families, but the c.1106A>T, (p.K369M) and c.1648G>A, (p.A550T) in ZNF644 did not co-segregated with high myopia in the families and should be excluded as causative mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_provenance.
- NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_assertion evidence source_evidence_literature NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_provenance.
- NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_assertion SIO_000772 25525168 NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_provenance.
- NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_assertion wasDerivedFrom befree-2016 NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_provenance.
- NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_assertion wasGeneratedBy ECO_0000203 NP1249636.RAYPJ7RwmW33ROc-SjiPItzyynlUcSA3L7YkRy-RX6jeI130_provenance.