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- source_evidence_literature type ECO_0000212 NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_provenance.
- NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_assertion description "[Mild hypophosphatasia (HPP) phenotype may result from ALPL gene mutations exhibiting residual alkaline phosphatase activity or from severe heterozygous mutations exhibiting a dominant negative effect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_provenance.
- NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_assertion evidence source_evidence_literature NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_provenance.
- NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_assertion SIO_000772 19500388 NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_provenance.
- NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_assertion wasDerivedFrom befree-2016 NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_provenance.
- NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_assertion wasGeneratedBy ECO_0000203 NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_provenance.
- befree-2016 importedOn "2016-02-19" NP743410.RAXTKG9y4hUNzJEzWHASQ9o9WpluC_G5xqnhlBRqpCrRs130_provenance.