Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_assertion> ?p ?o ?g. }
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- NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_assertion type Assertion NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_head.
- NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_assertion description "[Sequence analysis of the entire protein-coding region of the GJA8 gene from the pedigree detected a C-->T transition in codon 88, which introduced a novel MnlI restriction-enzyme site that also cosegregated with the cataract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_provenance.
- NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_assertion evidence source_evidence_literature NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_provenance.
- NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_assertion SIO_000772 9497259 NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_provenance.
- NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_assertion wasDerivedFrom befree-20140225 NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_provenance.
- NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_assertion wasGeneratedBy ECO_0000203 NP184906.RAVXneR7_8dH6FJ0DA90HRePPqJpHM88ADII-ouBMqWXs130_provenance.