Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_assertion> ?p ?o ?g. }
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- NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_assertion type Assertion NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_head.
- NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_assertion description "[We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_provenance.
- NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_assertion evidence source_evidence_literature NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_provenance.
- NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_assertion SIO_000772 15471865 NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_provenance.
- NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_assertion wasDerivedFrom befree-20150227 NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_provenance.
- NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_assertion wasGeneratedBy ECO_0000203 NP801717.RAfdBnhW6uH0SuZM7Q9rhEJQggfzTLfnzu7CTZaJtPZPw130_provenance.