Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_assertion> ?p ?o ?g. }
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- NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_assertion type Assertion NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_head.
- NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_assertion description "[CEL-maturity onset diabetes of the young (MODY), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (CEL).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_provenance.
- NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_assertion evidence source_evidence_literature NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_provenance.
- NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_assertion SIO_000772 21784842 NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_provenance.
- NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_assertion wasDerivedFrom befree-20140225 NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_provenance.
- NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_assertion wasGeneratedBy ECO_0000203 NP718113.RAV2l-L60sOzOsexvtguASGZYn0Rm1ubyJT3zQ3UT_4aM130_provenance.