Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_assertion> ?p ?o ?g. }
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- NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_assertion type Assertion NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_head.
- NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_assertion description "[Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_provenance.
- NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_assertion evidence source_evidence_literature NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_provenance.
- NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_assertion SIO_000772 10980542 NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_provenance.
- NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_assertion wasDerivedFrom befree-2016 NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_provenance.
- NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_assertion wasGeneratedBy ECO_0000203 NP294577.RA0KN_iPMixZNhCAQ6fZr4zWZ0iRA6JOUGgBgA01-KQ7I130_provenance.