Matches in Nanopublications for { ?s ?p "[A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_assertion description "[A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP526160.RAe2DzwhyzTW-YpHxw-V0-zJJWLaiQNob2WI2gJse6PE0130_provenance.
- NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_assertion description "[A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP375478.RAjm3z4iK7DtS2OqUnOsoiOC3i7uv3A91a2DL8MnPM-Bo130_provenance.
- assertion description "[A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_assertion description "[A family history of uveitis supported a diagnosis of Blau syndrome, and analysis of the NOD2 gene revealed a heterozygous gain-of-function missense mutation (Arg334Trp) that has previously been detected in Blau syndrome kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP599863.RAZLme9NsLF7BVXz-5wwu-WVzs23kku9UsDoSiWFHvixI130_provenance.