Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_assertion> ?p ?o ?g. }
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- NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_assertion type Assertion NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_head.
- NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_assertion description "[Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_provenance.
- NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_assertion evidence source_evidence_literature NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_provenance.
- NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_assertion SIO_000772 23551428 NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_provenance.
- NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_assertion wasDerivedFrom befree-2016 NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_provenance.
- NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_assertion wasGeneratedBy ECO_0000203 NP1065917.RAFqjgvOLQW2srLAO_mKf9hUdgY9ZWqV7BJUlZQIepdDE130_provenance.