Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_assertion> ?p ?o ?g. }
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- NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_assertion type Assertion NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_head.
- NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_assertion description "[Two novel missense mutations in the thyroid peroxidase gene, R665W and G771R, result in a localization defect and cause congenital hypothyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_provenance.
- NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_assertion evidence source_evidence_literature NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_provenance.
- NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_assertion SIO_000772 11916616 NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_provenance.
- NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_assertion wasDerivedFrom lhgdn-20090331 NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_provenance.
- NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_assertion wasGeneratedBy ECO_0000203 NP135478.RACiqAw324tkOhMeZew2c2HvcbSb1K6-crc6eij5DXpio130_provenance.