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. |
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| 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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