Associated Papers
Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.
Luo L et al.
Diagnostics (basel, Switzerland), 2026
Bromodomain and PHD Finger-Containing Protein 1: From Functions to a Developmental Disorder, Cancer, and Therapeutics.
Razavi A et al.
Results and Problems in Cell Differentiation, 2025
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.
Morison LD et al.
European Journal of Medical Genetics, 2024
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
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