Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.
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| Title: | Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants. |
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| Authors: | Yeter B; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye., Kendir Demirkol Y; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye., Usluer E; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye., Görüşen Kavak İ; Department of Pediatrics, School of Medical, Marmara University, Istanbul 34899, Türkiye., Ergin SG; Intergen Genetics and Rare Disease Diagnosis Center, R&D Department, Ankara 06510, Türkiye., Elçioğlu NH; Department of Pediatric Genetics, School of Medical, Marmara University, Istanbul 34899, Türkiye.; Department of Pediatric Genetics, School of Medical, Eastern Mediterranean University, Mersin 99628, Türkiye. |
| Source: | Genes [Genes (Basel)] 2025 Sep 23; Vol. 16 (10). Date of Electronic Publication: 2025 Sep 23. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2073-4425 |
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| DOI: | 10.3390/genes16101120 |
