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- source_evidence_literature type ECO_0000212 NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_provenance.
- NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_assertion description "[We describe herein a proband with AHO and severe skeletal deformities (including phocomelia) related to a novel GNAS mutation and the delivery of a male infant with homozygous normal GNAS genotype after PGD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_provenance.
- NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_assertion evidence source_evidence_literature NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_provenance.
- NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_assertion SIO_000772 18089698 NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_provenance.
- NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_assertion wasDerivedFrom befree-20150227 NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_provenance.
- NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_assertion wasGeneratedBy ECO_0000203 NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_provenance.
- befree-20150227 importedOn "2015-02-27" NP429694.RAmIoA1HKOmmlpR4viX2ewn0gHyHO6BfgMFWHLlrBHbAw130_provenance.