Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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.
- 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." provenance.
- 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." provenance.
- NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_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." NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.