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KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.

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Title: KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.
Authors: Uctepe E; Acıbadem Ankara Tissue Typing Laboratory, Ankara, Turkey., Esen FN; Acibadem Labgen Genetic Diagnosis Center, İstanbul, Turkey., Tümer S; Acibadem Labgen Genetic Diagnosis Center, İstanbul, Turkey., Mancılar H; Acibadem Labgen Genetic Diagnosis Center, İstanbul, Turkey., Yeşilyurt A; Acibadem Labgen Genetic Diagnosis Center, İstanbul, Turkey.; Acibadem Maslak Hospital, İstanbul,Turkey.
Source: Intractable & rare diseases research [Intractable Rare Dis Res] 2022 Nov; Vol. 11 (4), pp. 219-221.
Publication Type: Journal Article
Journal Info: Publisher: International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) Country of Publication: Japan NLM ID: 101586847 Publication Model: Print Cited Medium: Print ISSN: 2186-3644 (Print) Linking ISSN: 21863644 NLM ISO Abbreviation: Intractable Rare Dis Res Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.
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  Data: <searchLink fieldCode="AU" term="%22Uctepe+E%22">Uctepe E</searchLink>; Acıbadem Ankara Tissue Typing Laboratory, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Esen+FN%22">Esen FN</searchLink>; Acibadem Labgen Genetic Diagnosis Center, İstanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Tümer+S%22">Tümer S</searchLink>; Acibadem Labgen Genetic Diagnosis Center, İstanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Mancılar+H%22">Mancılar H</searchLink>; Acibadem Labgen Genetic Diagnosis Center, İstanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Yeşilyurt+A%22">Yeşilyurt A</searchLink>; Acibadem Labgen Genetic Diagnosis Center, İstanbul, Turkey.; Acibadem Maslak Hospital, İstanbul,Turkey.
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  Data: <searchLink fieldCode="JN" term="%22101586847%22">Intractable & rare diseases research</searchLink> [Intractable Rare Dis Res] 2022 Nov; Vol. 11 (4), pp. 219-221.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22International+Advancement+Center+for+Medicine+%26+Health+Research+Co%2E+%28IACMHR+Co%2E%29%22">International Advancement Center for Medicine & Health Research Co. (IACMHR Co.) </searchLink><i>Country of Publication: </i>Japan <i>NLM ID: </i>101586847 <i>Publication Model: </i>Print <i>Cited Medium: </i>Print <i>ISSN: </i>2186-3644 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221863644%22">21863644 </searchLink><i>NLM ISO Abbreviation: </i>Intractable Rare Dis Res <i>Subsets: </i>PubMed not MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36457583
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      – Type: doi
        Value: 10.5582/irdr.2022.01096
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      – Code: eng
        Text: English
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        StartPage: 219
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      – TitleFull: KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.
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            NameFull: Uctepe E
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            NameFull: Esen FN
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            NameFull: Tümer S
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            NameFull: Mancılar H
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            NameFull: Yeşilyurt A
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            – D: 01
              M: 11
              Text: 2022 Nov
              Type: published
              Y: 2022
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              Value: 11
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              Value: 4
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            – TitleFull: Intractable & rare diseases research
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