Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion type Assertion NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_head.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion description "[The semilethal skeletal malformation syndrome campomelic dysplasia (CD) with or without XY sex reversal is caused by mutations within the SOX9 gene on 17q24.3 or by chromosomal aberrations (translocations, inversions or deletions) with breakpoints outside the SOX9 coding region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion evidence source_evidence_literature NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion SIO_000772 17204049 NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion wasDerivedFrom befree-2016 NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.
- NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_assertion wasGeneratedBy ECO_0000203 NP587277.RAatPtSd4Kptx04bW2VtgEEO4Q-Tqihec4DNREW7K35N0130_provenance.