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- source_evidence_literature type ECO_0000212 NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_provenance.
- NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_assertion description "[We conducted a retrospective review of the results of urinary steroid profiling (USP) by GC-MS and mutational analysis of SRD5A2 [steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)] by PCR and direct DNA sequencing of all 46,XY DSD patients referred to our laboratory with biochemical and/or genetic findings compatible with 5ARD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_provenance.
- NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_assertion evidence source_evidence_literature NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_provenance.
- NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_assertion SIO_000772 23513070 NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_provenance.
- NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_assertion wasDerivedFrom befree-2016 NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_provenance.
- NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_assertion wasGeneratedBy ECO_0000203 NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1061992.RAtiffJ_xFXI35QWUnydUEkdS0zNlT6az1I364wEYNcM4130_provenance.