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High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.

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Title: High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Authors: Makretskaya N; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia., Kalinchenko N; Institute of Pediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia., Tebieva I; Consulting and Diagnostic Department, Republic of North Ossetia-Alania (RNOA) 'Republican Children's Clinical Hospital', Vladikavkaz, Russia., Ionova S; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia., Zinchenko R; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia., Marakhonov A; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia., Tiulpakov A; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia.
Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 May 16; Vol. 14, pp. 1146768. Date of Electronic Publication: 2023 May 16 (Print Publication: 2023).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
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  Data: <searchLink fieldCode="AU" term="%22Makretskaya+N%22">Makretskaya N</searchLink>; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kalinchenko+N%22">Kalinchenko N</searchLink>; Institute of Pediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Tebieva+I%22">Tebieva I</searchLink>; Consulting and Diagnostic Department, Republic of North Ossetia-Alania (RNOA) 'Republican Children's Clinical Hospital', Vladikavkaz, Russia.<br /><searchLink fieldCode="AU" term="%22Ionova+S%22">Ionova S</searchLink>; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Zinchenko+R%22">Zinchenko R</searchLink>; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Marakhonov+A%22">Marakhonov A</searchLink>; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Tiulpakov+A%22">Tiulpakov A</searchLink>; Department of Genetics of Endocrine Diseases, Research Centre for Medical Genetics, Moscow, Russia.
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  Data: <searchLink fieldCode="JN" term="%22101555782%22">Frontiers in endocrinology</searchLink> [Front Endocrinol (Lausanne)] 2023 May 16; Vol. 14, pp. 1146768. <i>Date of Electronic Publication: </i>2023 May 16 (<i>Print Publication: </i>2023).
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        Value: 10.3389/fendo.2023.1146768
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              Text: 2023 May 16
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