Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_assertion> ?p ?o ?g. }
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- NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_assertion type Assertion NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_head.
- NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_assertion description "[A short-segment Hirschsprung disease (HSCR) patient associated with 21 trisomy showing point nucleotidic changes in both the receptor tyrosine kinase (RET) proto-oncogene and the endothelin-B receptor (EDNRB) gene is reported.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_provenance.
- NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_assertion evidence source_evidence_literature NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_provenance.
- NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_assertion SIO_000772 10458491 NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_provenance.
- NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_assertion wasDerivedFrom befree-20140225 NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_provenance.
- NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_assertion wasGeneratedBy ECO_0000203 NP537141.RAav9yza8LKngTYsSRkruAX1RIj2-62_D_az_Mamt8K7c130_provenance.