Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_assertion> ?p ?o ?g. }
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- NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_assertion type Assertion NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_head.
- NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_assertion description "[Alagille syndrome (AGS) is caused by heterozygous mutations in JAG1, and mutations have been previously reported in about 70% of patients who meet clinical diagnostic criteria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_provenance.
- NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_assertion evidence source_evidence_literature NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_provenance.
- NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_assertion SIO_000772 16575836 NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_provenance.
- NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_assertion wasDerivedFrom befree-2016 NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_provenance.
- NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_assertion wasGeneratedBy ECO_0000203 NP542846.RAhDzHvCsMANUUSB0oAPelW_W6R70voNQ3zG3BjI8Jbn8130_provenance.