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- source_evidence_literature type ECO_0000212 NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_provenance.
- NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_assertion description "[We demonstrate that both WT PHOX2B and the neuroblastoma-associated R100L missense and the CCHS-associated alanine expansion variants induce nuclear translocation of HPCAL1 in a Ca(2+)-independent manner, while the neuroblastoma-associated 676delG frameshift and K155X truncation mutants impair subcellular localization of HPCAL1, causing it to remain in the cytoplasm.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_provenance.
- NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_assertion evidence source_evidence_literature NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_provenance.
- NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_assertion SIO_000772 23873030 NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_provenance.
- NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_assertion wasDerivedFrom befree-20150227 NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_provenance.
- NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_assertion wasGeneratedBy ECO_0000203 NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP463921.RATdgwE7t2UQ6wbf2ARbRjbft3XAYSs-DOm78xSXoYJxE130_provenance.