Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

2015/04/15 by Naomi Hino-Fukuyo, Naomi Hino‐Fukuyo, Atsuo Kikuchi +17 · 1 citation
Biochemistry, Genetics and Molecular Biology · #Genetics and Neurodevelopmental Disorders #Genomic variations and chromosomal abnormalities #Genomics and Rare Diseases

paper · doi:10.1007/s00439-015-1553-6

openalex publication_date 2015/04/15 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/28

Citations

• A framework for variation discovery and genotyping using next-generation DNA sequencing data

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