Matches in Nanopublications for { ?s ?p "[Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_assertion description "[Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP480274.RAaP7C_e3L2mDczzTo6tdasNKMiUg6AQnoTOjxB2X4v9M130_provenance.
- NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_assertion description "[Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4522.RAYF3nmK0-5yeJi-XXGtLysuEwnX45-4_3yzIx9ouTyGk130_provenance.
- NP24182.RA7SXkcYbJy0QSRxFhFLxc-UVgbHn6HDpfKN_NV9yUyAg130_assertion description "[Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP24182.RA7SXkcYbJy0QSRxFhFLxc-UVgbHn6HDpfKN_NV9yUyAg130_provenance.