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. |
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| 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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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14732 |
