Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_assertion> ?p ?o ?g. }
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- NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_assertion type Assertion NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_head.
- NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_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." NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_provenance.
- NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_assertion evidence source_evidence_literature NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_provenance.
- NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_assertion SIO_000772 11745997 NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_provenance.
- NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_assertion wasDerivedFrom befree-2016 NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_provenance.
- NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_assertion wasGeneratedBy ECO_0000203 NP339078.RAfgqMY3LPaAOXO2wjP_lSDIaI81vGf5aVtvQkDZFZHDY130_provenance.