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- source_evidence_literature type ECO_0000212 NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_provenance.
- NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_assertion description "[In two self-healing collodion baby siblings with markedly diminished epidermal transglutaminase 1 activity we found the compound heterozygous transglutaminase 1 mutations G278R and D490G.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_provenance.
- NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_assertion evidence source_evidence_literature NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_provenance.
- NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_assertion SIO_000772 12542526 NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_provenance.
- NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_assertion wasDerivedFrom befree-20150227 NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_provenance.
- NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_assertion wasGeneratedBy ECO_0000203 NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP734842.RAdPfOtn_SwnLBNO-yLKsOb1VLMig97jqnm8kN26orOSg130_provenance.