Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.
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| Title: | Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion. |
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| Authors: | Poleg T; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Proskorovski-Ohayon R; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Dolgin V; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Hadar N; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Safran A; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Agam N; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Jean MM; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Freund O; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Gradstein L; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Shelef I; Department of Radiology, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Sadaka Y; Child Development Center, Ministry of Health, and Azrieli National Centre for Autism, Ben-Gurion University, Beer-Sheva, Israel., Birk OS; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.; Genetics Institute, Soroka Medical Center, Beer-Sheva, Israel. |
| Source: | Clinical genetics [Clin Genet] 2025 Mar; Vol. 107 (3), pp. 348-353. Date of Electronic Publication: 2024 Nov 25. |
| Publication Type: | Journal Article; 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.14653 |
