Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_assertion> ?p ?o ?g. }
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- NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_assertion type Assertion NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_head.
- NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_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." NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_provenance.
- NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_assertion evidence source_evidence_literature NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_provenance.
- NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_assertion SIO_000772 23551428 NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_provenance.
- NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_assertion wasDerivedFrom befree-20150227 NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_provenance.
- NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_assertion wasGeneratedBy ECO_0000203 NP905197.RAYsPAsRXmBvc3AZ8ZXMjjTpsBoINxXi8nOYC1oTr0d7I130_provenance.