Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion> ?p ?o ?g. }
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- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion type Assertion NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_head.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion wasGeneratedBy ECO_0000203 NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion wasDerivedFrom befree-2016 NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion SIO_000772 11973334 NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion evidence source_evidence_literature NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.
- NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_assertion description "[We investigated a large EBS kindred who exhibited a markedly heterogeneous clinical presentation and detected two distinct keratin 5 mutations in the proband, the most severely affected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP352910.RA-XLBjgSckmz2t0a0hefCfLLuWOp6FKljRFGVvcTh2v0130_provenance.