Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_assertion> ?p ?o ?g. }
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- NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_assertion type Assertion NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_head.
- NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_assertion description "[We report four novel mutations in peripherin/RDS and a relatively high frequency (23%) of mutations in this gene in families with adMD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_provenance.
- NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_assertion evidence source_evidence_literature NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_provenance.
- NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_assertion SIO_000772 17653047 NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_provenance.
- NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_assertion wasDerivedFrom befree-20140225 NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_provenance.
- NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_assertion wasGeneratedBy ECO_0000203 NP422372.RAllswUZhKCyOw6NuutzUNhTxl9J0eMyi8HyrTT7xIiYQ130_provenance.