Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
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| Title: | Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus. |
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| Authors: | Mikhalchuk K; Research Centre for Medical Genetics, Moscow, Russia., Zabnenkova V; Research Centre for Medical Genetics, Moscow, Russia., Braslavskaya S; Research Centre for Medical Genetics, Moscow, Russia., Chukhrova A; Research Centre for Medical Genetics, Moscow, Russia., Ryadninskaya N; Research Centre for Medical Genetics, Moscow, Russia., Dadaly E; Research Centre for Medical Genetics, Moscow, Russia., Rudenskaya G; Research Centre for Medical Genetics, Moscow, Russia., Sharkova I; Research Centre for Medical Genetics, Moscow, Russia., Anisimova I; Research Centre for Medical Genetics, Moscow, Russia., Bessonova L; Research Centre for Medical Genetics, Moscow, Russia., Mishina I; Research Centre for Medical Genetics, Moscow, Russia., Repina S; Research Centre for Medical Genetics, Moscow, Russia., Petukhova M; Research Centre for Medical Genetics, Moscow, Russia., Sparber P; Research Centre for Medical Genetics, Moscow, Russia., Kuchina A; Research Centre for Medical Genetics, Moscow, Russia., Saushev D; Research Centre for Medical Genetics, Moscow, Russia., Artemieva S; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute of Pirogov Russian National Research Medical University, Moscow, Russia., Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University Named After N.N. Burdenko, Voronezh, Russia.; Saratov State Medical University, Saratov, Russia., Kanivets I; Genomed LLC, Moscow, Russia.; FSBEI FPE RMACPE MOH Russia, Moscow, Russia., Zarubina V; Morozov Children's City Clinical Hospital, Moscow, Russia., Barykova D; State Budgetary Healthcare Institution Irkutsk Order of the Badge Regional Clinical Hospital, Irkutsk, Russia., Lisakonova E; Docdeti LLC, Moscow, Russia., Polyakov A; Research Centre for Medical Genetics, Moscow, Russia., Shchagina O; Research Centre for Medical Genetics, Moscow, Russia. |
| Source: | Clinical genetics [Clin Genet] 2025 Jul; Vol. 108 (1), pp. 58-68. Date of Electronic Publication: 2025 Feb 04. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14714 |
