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. |
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| 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 |
| ISSN: | 2186-3644 |
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| DOI: | 10.5582/irdr.2022.01096 |
