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Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.

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Title: Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.
Authors: Sparber P; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation., Ulas E; Department of Cell Biology, Institute of Protein Research of Russian Academy of Science, 142290 Moscow, Russian Federation.; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119992 Moscow, Russian Federation., Filatova A; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation., Tatarskiy E; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation., Perelman G; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation., Makretskaya N; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation., Nagaeva E; Institute of Pediatric Endocrinology, Endocrinology Research Centre, 117292 Moscow, Russian Federation., Kareva M; Institute of Pediatric Endocrinology, Endocrinology Research Centre, 117292 Moscow, Russian Federation., Frolova E; Consulting and Diagnostic Department, National Medical Research Center for Children's Health Federal State Autonomous Institution of the Russian Federation Ministry of Health, 119991 Moscow, Russian Federation., Kalinchenko N; Institute of Pediatric Endocrinology, Endocrinology Research Centre, 117292 Moscow, Russian Federation., Tvorogova AV; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, 119334 Moscow, Russian Federation., Golyshev S; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119992 Moscow, Russian Federation., Burakov A; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119992 Moscow, Russian Federation., Tabakov V; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation., Lozier E; Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation., Konovalov F; Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation., Voinova V; Clinical Genetics Department, Veltischev Research and Clinical Institute for Pediatrics Pirogov RNRMU, 125412 Moscow, Russian Federation., Tiulpakov A; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation., Skoblov M; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation.
Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2025 Jul 15; Vol. 110 (8), pp. e2485-e2497.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Out-of-frame Translation Rescues a Loss-of-function Variant in a Novel TBCE Phenotype.
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  Data: <searchLink fieldCode="AU" term="%22Sparber+P%22">Sparber P</searchLink>; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Ulas+E%22">Ulas E</searchLink>; Department of Cell Biology, Institute of Protein Research of Russian Academy of Science, 142290 Moscow, Russian Federation.; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119992 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Filatova+A%22">Filatova A</searchLink>; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Tatarskiy+E%22">Tatarskiy E</searchLink>; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Perelman+G%22">Perelman G</searchLink>; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Makretskaya+N%22">Makretskaya N</searchLink>; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Nagaeva+E%22">Nagaeva E</searchLink>; Institute of Pediatric Endocrinology, Endocrinology Research Centre, 117292 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Kareva+M%22">Kareva M</searchLink>; Institute of Pediatric Endocrinology, Endocrinology Research Centre, 117292 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Frolova+E%22">Frolova E</searchLink>; Consulting and Diagnostic Department, National Medical Research Center for Children's Health Federal State Autonomous Institution of the Russian Federation Ministry of Health, 119991 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Kalinchenko+N%22">Kalinchenko N</searchLink>; Institute of Pediatric Endocrinology, Endocrinology Research Centre, 117292 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Tvorogova+AV%22">Tvorogova AV</searchLink>; Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Institute of Gene Biology, Russian Academy of Sciences, 119334 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Golyshev+S%22">Golyshev S</searchLink>; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119992 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Burakov+A%22">Burakov A</searchLink>; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, 119992 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Tabakov+V%22">Tabakov V</searchLink>; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Lozier+E%22">Lozier E</searchLink>; Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Konovalov+F%22">Konovalov F</searchLink>; Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Voinova+V%22">Voinova V</searchLink>; Clinical Genetics Department, Veltischev Research and Clinical Institute for Pediatrics Pirogov RNRMU, 125412 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Tiulpakov+A%22">Tiulpakov A</searchLink>; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation.<br /><searchLink fieldCode="AU" term="%22Skoblov+M%22">Skoblov M</searchLink>; Department of Functional Genomics, Research Centre for Medical Genetics, 115478 Moscow, Russian Federation.
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  Data: <searchLink fieldCode="JN" term="%220375362%22">The Journal of clinical endocrinology and metabolism</searchLink> [J Clin Endocrinol Metab] 2025 Jul 15; Vol. 110 (8), pp. e2485-e2497.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0375362 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1945-7197 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%220021972X%22">0021972X </searchLink><i>NLM ISO Abbreviation: </i>J Clin Endocrinol Metab <i>Subsets: </i>MEDLINE
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