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- source_evidence_literature type ECO_0000212 NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_provenance.
- NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_assertion description "[Maternally derived mutations are usually associated with resistance to parathyroid hormone termed 'pseudohypoparathyroidism type Ia.' Paternally derived mutations are associated with AHO but usually normal hormone responsiveness, known as 'pseudo-pseudohypoparathyroidism.' These observations can be explained by tissue-specific GNAS1 imprinting.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_provenance.
- NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_assertion evidence source_evidence_literature NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_provenance.
- NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_assertion SIO_000772 12624854 NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_provenance.
- NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_assertion wasDerivedFrom befree-20150227 NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_provenance.
- NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_assertion wasGeneratedBy ECO_0000203 NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_provenance.
- befree-20150227 importedOn "2015-02-27" NP655986.RAep8nUIWl-GajqrEmdMNj1AOK_RIijzbYpOzCYarUEGY130_provenance.