Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_assertion> ?p ?o ?g. }
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- NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_assertion type Assertion NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_head.
- NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_assertion description "[In humans, mutations in the FALDH gene cause Sj�gren-Larsson syndrome (SLS), which is characterized by ichthyosis, mental retardation and spasticity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_provenance.
- NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_assertion evidence source_evidence_literature NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_provenance.
- NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_assertion SIO_000772 11306053 NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_provenance.
- NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_assertion wasDerivedFrom befree-2016 NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_provenance.
- NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_assertion wasGeneratedBy ECO_0000203 NP314668.RAa8rE9mV1mx3Yt_PpszxizcvAAnp9Y8qdFVZJtY_sl0g130_provenance.