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Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.

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Title: Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.
Authors: Lu PN; Greenwood Genetic Center, Greenwood, South Carolina, USA., Melton C; University of South Carolina School of Medicine, Columbia, South Carolina, USA.; UNC Chapel Hill-Department of Psychiatry, Chapel Hill, North Carolina, USA., Dupont B; Greenwood Genetic Center, Greenwood, South Carolina, USA., Jones JR; Greenwood Genetic Center, Greenwood, South Carolina, USA., Abidi F; Greenwood Genetic Center, Greenwood, South Carolina, USA., Rose A; Greenwood Genetic Center, Greenwood, South Carolina, USA., Patterson WG; Greenwood Genetic Center, Greenwood, South Carolina, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Flanagan-Steet H; Greenwood Genetic Center, Greenwood, South Carolina, USA.
Source: Clinical genetics [Clin Genet] 2025 Sep; Vol. 108 (3), pp. 231-239. Date of Electronic Publication: 2025 Feb 23.
Publication Type: Journal Article; Case Reports; 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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  Data: Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.
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  Data: <searchLink fieldCode="AU" term="%22Lu+PN%22">Lu PN</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Melton+C%22">Melton C</searchLink>; University of South Carolina School of Medicine, Columbia, South Carolina, USA.; UNC Chapel Hill-Department of Psychiatry, Chapel Hill, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Dupont+B%22">Dupont B</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Jones+JR%22">Jones JR</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Abidi+F%22">Abidi F</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Rose+A%22">Rose A</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Patterson+WG%22">Patterson WG</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Lyons+MJ%22">Lyons MJ</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Flanagan-Steet+H%22">Flanagan-Steet H</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Sep; Vol. 108 (3), pp. 231-239. <i>Date of Electronic Publication: </i>2025 Feb 23.
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        Value: 10.1111/cge.14732
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        Text: English
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              M: 09
              Text: 2025 Sep
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