Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_assertion> ?p ?o ?g. }
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- NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_assertion type Assertion NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_head.
- NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_assertion wasGeneratedBy ECO_0000203 NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_provenance.
- NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_assertion wasDerivedFrom befree-2016 NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_provenance.
- NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_assertion SIO_000772 15472171 NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_provenance.
- NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_assertion evidence source_evidence_literature NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_provenance.
- NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_assertion description "[We identified a new heterozygous SF1 gene mutation, C16X, in a 46, XY patient showing gonadal dysgenesis with normal adrenal function: low basal levels of AMH and testosterone (T), weak T response to hCG, hypoplastic testes with abundant seminiferous tubules but rare germ cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP463550.RAA8OQCZnjMdbhc4p3CrsgUL2dPVW68pLMb_8ZsWqjTck130_provenance.