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- source_evidence_literature type ECO_0000212 NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.
- NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_assertion description "[We reviewed the eight reported cases with proven PIGV mutations and re-defined the phenotypic spectrum associated with PIGV mutations: intellectual disability, the distinct facial gestalt, brachytelephalangy, and hyperphosphatasia are constant features but also anorectal malformations and Hirschsprung disease as well as cleft lip/palate and hearing impairment should be considered as part of the clinical spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.
- NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_assertion evidence source_evidence_literature NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.
- NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_assertion SIO_000772 21739589 NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.
- NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_assertion wasDerivedFrom befree-20150227 NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.
- NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_assertion wasGeneratedBy ECO_0000203 NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP919854.RAIgLz-Vw1hGIHp0_5EQSY0gVf4kA9h1UqSdRXvPvvqBw130_provenance.