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- source_evidence_literature type ECO_0000212 NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_provenance.
- NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_assertion description "[We report on a postmortem diagnosis of perinatal lethal hypophosphatasia, an inborn error of metabolism characterized by a liver/bone/kidney alkaline phosphatase (ALP)-related defective bone mineralization due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_provenance.
- NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_assertion evidence source_evidence_literature NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_provenance.
- NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_assertion SIO_000772 11745997 NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_provenance.
- NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_assertion wasDerivedFrom befree-20150227 NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_provenance.
- NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_assertion wasGeneratedBy ECO_0000203 NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP236867.RA_C09eUHh4ybHDReg7Uwh0phZX-dEmnhiXi0ZY35sICE130_provenance.