Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_assertion> ?p ?o ?g. }
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- NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_assertion type Assertion NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_head.
- NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_assertion description "[Herein, we describe two novel CYP11B1 mutations (g659_660dupTG, p.M92X; g.4817G>A, p.R453Q) found in a patient diagnosed with classic 11OHD, after presenting with borderline elevated 17-hydroxyprogesterone concentrations in CAH newborn screening.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_provenance.
- NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_assertion evidence source_evidence_literature NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_provenance.
- NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_assertion SIO_000772 19844114 NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_provenance.
- NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_assertion wasDerivedFrom befree-2016 NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_provenance.
- NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_assertion wasGeneratedBy ECO_0000203 NP770602.RAJI4RiBCDtYIks_npxB-Uttzbmo8RHA5Qz65xeFJSlcQ130_provenance.