Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_assertion> ?p ?o ?g. }
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- NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_assertion type Assertion NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_head.
- NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_assertion description "[Patients with the autosomal recessive skin disorder lamellar ichthyosis (LI) appear to have deficient cross-linking of the cell envelope due to mutations identified in TGase 1, linking this enzyme to LI.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_provenance.
- NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_assertion evidence source_evidence_literature NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_provenance.
- NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_assertion SIO_000772 17024410 NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_provenance.
- NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_assertion wasDerivedFrom befree-2016 NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_provenance.
- NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_assertion wasGeneratedBy ECO_0000203 NP573262.RADHfumd7Bir_ZT_BG9XNu1TQ9U5b4F41UGM_-HY6CYhw130_provenance.