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- source_evidence_literature type ECO_0000212 NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_provenance.
- NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_assertion description "[Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_provenance.
- NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_assertion evidence source_evidence_literature NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_provenance.
- NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_assertion SIO_000772 18445049 NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_provenance.
- NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_assertion wasDerivedFrom befree-2016 NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_provenance.
- NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_assertion wasGeneratedBy ECO_0000203 NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_provenance.
- befree-2016 importedOn "2016-02-19" NP668459.RArGNNkiDOXkZ8q74KktXETxqh0ZxTnlswGc4vmtJej48130_provenance.