Matches in Nanopublications for { ?s ?p "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_assertion description "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP229493.RA7eKY5Sj1U-BaIdIkdgHMj_NRRU2-aH-TVIFlFwuOYo0130_provenance.
- NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_assertion description "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP863606.RA-DSO9W0uGILyJq5RO_zRNydCRXiSQgO6Ti24yQfDNrI130_provenance.
- assertion description "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP978076.RAhONKHgsoMZpeuk_pI6C96ZyKzhuV0_8GS-g1jrm5uJg130_assertion description "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP978076.RAhONKHgsoMZpeuk_pI6C96ZyKzhuV0_8GS-g1jrm5uJg130_provenance.
- NP881489.RAlavBfs4GhsihPqbFEGP1QzL1cP4gNTgGdF9s_GdUdJQ130_assertion description "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP881489.RAlavBfs4GhsihPqbFEGP1QzL1cP4gNTgGdF9s_GdUdJQ130_provenance.
- NP835463.RA64PImSlXcJHbFvNIplfqf6JIohM_DCVh_JLaJRzfD8o130_assertion description "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP835463.RA64PImSlXcJHbFvNIplfqf6JIohM_DCVh_JLaJRzfD8o130_provenance.
- NP881482.RAwEYh85RbZHChpqs2R3wKQVssUYFfed64fwhcdCU2iIM130_assertion description "[The proband was a male with Ohtahara syndrome, ambiguous genitalia, psychomotor delay, and central nervous system dysgenesis due to a novel ARX mutation in exon 5, causing a frameshift in the aristaless domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP881482.RAwEYh85RbZHChpqs2R3wKQVssUYFfed64fwhcdCU2iIM130_provenance.