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- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion type Assertion NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_head.
- 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.
- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion evidence source_evidence_literature NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion SIO_000772 20577004 NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion wasDerivedFrom befree-20140225 NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.
- NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_assertion wasGeneratedBy ECO_0000203 NP650644.RAqpk-lvWFqFDn-xbTipMlSJhvHJ9NF8AHDszf_F5i1g0130_provenance.