Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_assertion> ?p ?o ?g. }
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- NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_assertion type Assertion NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_head.
- NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_assertion description "[Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_provenance.
- NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_assertion evidence source_evidence_literature NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_provenance.
- NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_assertion SIO_000772 17620573 NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_provenance.
- NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_assertion wasDerivedFrom befree-20150227 NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_provenance.
- NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_assertion wasGeneratedBy ECO_0000203 NP762078.RAHjN6dr_hNV8ZWgE-ZwUytsB9HrZfyMB87q8CW9KCHqk130_provenance.