Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_assertion type Assertion NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_head.
- NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_assertion description "[Our findings indicate that de novo defects in PHF6 in females result in a recognisable phenotype which might have been under-recognised so far and which comprises variable ID, a characteristic facial gestalt, hypoplastic nails, brachydactyly, clinodactyly mainly of fingers IV and V, dental anomalies, and linear skin hyperpigmentation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_provenance.
- NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_assertion evidence source_evidence_literature NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_provenance.
- NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_assertion SIO_000772 24092917 NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_provenance.
- NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_assertion wasDerivedFrom befree-2016 NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_provenance.
- NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_assertion wasGeneratedBy ECO_0000203 NP1116127.RAPs343TEa1QcF3FYtkqGixqGQLzVVS8e6Z2JT7LVll0E130_provenance.