Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion type Assertion NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_head.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion description "[The absence of minifascicle formation and the absence of a mutation in desert hedgehog homolog in this patient with gonadal dysgenesis and peripheral neuropathy expand the clinical and genetic heterogeneity of this rare entity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion evidence source_evidence_literature NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion SIO_000772 19167223 NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion wasDerivedFrom befree-20140225 NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.
- NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_assertion wasGeneratedBy ECO_0000203 NP322780.RAZ19McfGqTif0AqHiPBeQ-BgkU031AfpjQxxxVZY_w9k130_provenance.