Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_assertion> ?p ?o ?g. }
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- NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_assertion type Assertion NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_head.
- NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_assertion description "[A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_provenance.
- NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_assertion evidence source_evidence_literature NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_provenance.
- NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_assertion SIO_000772 15471865 NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_provenance.
- NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_assertion wasDerivedFrom befree-20140225 NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_provenance.
- NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_assertion wasGeneratedBy ECO_0000203 NP813483.RAj_ZMieXwF0FNTidy1qgOPcqCoUq2x7pTXv6pR3znRIk130_provenance.