Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion type Assertion NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_head.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion description "[Our study illustrates that ARX polyA expansions are primarily associated with syndromic MR and shows a higher yield (18% in our cohort) when these mutations are screened in familial cases of MR with epilepsy and/or dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion evidence source_evidence_literature NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion SIO_000772 21204215 NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion wasDerivedFrom befree-20140225 NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.
- NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_assertion wasGeneratedBy ECO_0000203 NP298642.RA1q8_7uIsB1KBHuBjPn8PMojkeP3ppBsk_0945DZggK4130_provenance.