Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_assertion> ?p ?o ?g. }
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- NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_assertion type Assertion NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_head.
- NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_assertion description "[In this case report, we describe a novel mutation (p.L30Q) in the INS gene resulting in permanent DM in a four-month-old female who presented with polyphagia, polyuria, irritability, and hyperglycemia with glucosuria and ketonuria without acidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_provenance.
- NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_assertion evidence source_evidence_literature NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_provenance.
- NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_assertion SIO_000772 23107109 NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_provenance.
- NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_assertion wasDerivedFrom befree-2016 NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_provenance.
- NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_assertion wasGeneratedBy ECO_0000203 NP1024480.RAA0yiGgeqSNo2c2lw-ESqEQUkXWKy7hqfT4gKrTphyrw130_provenance.