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Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia))
Published 2020-03-01“…Burdenko National Medical Research Center of Neurosurgery, Moscow, Russian <br> Federation</b> </p> <p> <b><sup>6 </sup>Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation</b> </p> <p> <b><sup>7 </sup>Center for Genetics and Reproductive Medicine “Genetiko”, Moscow, Russian <br> Federation</b> </p> <p> <b><sup>8 </sup>Institute of Integrative Omics and Applied Biotechnology (IIOAB), Bangalore, India</b> </p> <p> <b><sup>9</sup> Non-profit partnership International Scientific and Practical Center for the Proliferation <br> of Tissues of Russia, Moscow, Russian Federation</b> </p> <p> <b><sup>10</sup>Pirogov Russian National Research Medical University, Moscow, Russian Federation</b> </p> <p> <i>The article describes the clinical case of optic atrophy due to a homozygous mutation in exon 3 of the C19orf12 gene (chr19: 30193863AACAGCCCCCCG> A, rs515726204), the frequency of which in the ExAC control sample is 0.0074. …”
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Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations
Published 2025-02-01Get full text
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