Matches in Nanopublications for { ?s ?p "[Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion description "[Subsequently, 33 of 34 patients were identified with SOPH syndrome and had a 5741G/A nucleotide substitution (resulting in the amino acid substitution R1914H) in the NBAS gene in the homozygous state.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.