Matches in Nanopublications for { ?s ?p "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP363394.RA1NYKL3-Jt6VzfQ6XLtLJwrVwviHipAB24NRr6DlfEvw130_provenance.
- NP6033.RAtheeOQKxzcxx2jYXnupAcYWOwt9Kzv6DN62XZHi9qWw130_assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6033.RAtheeOQKxzcxx2jYXnupAcYWOwt9Kzv6DN62XZHi9qWw130_provenance.
- assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP799060.RARcKuUGt-Cj4xfshSFNIL9YSpfSvGglvbmJ-8Rhtqcyk130_assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP799060.RARcKuUGt-Cj4xfshSFNIL9YSpfSvGglvbmJ-8Rhtqcyk130_provenance.
- assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP754275.RABw4rJHAqKg7VaK-1Znspmv4q6MLVrjm2NLQ1K7em81g130_provenance.
- NP754276.RAAi4sE5p6d7yYrYCbumOdRDi_lqA4_vDRxOW8fz61zKU130_assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP754276.RAAi4sE5p6d7yYrYCbumOdRDi_lqA4_vDRxOW8fz61zKU130_provenance.
- NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_assertion description "[We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the solute carrier family 25, member 12, gene SLC25A12, which encodes the AGC1 protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP228169.RAIqTdXuCkMj4mxbcafqcDSkdfiwKHCJAqzPeKMt8eegc130_provenance.