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Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome
BACKGROUND: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Especially CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or harmful variants from the norm. CASE PRESENTATION: Herein, we repor...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962598/ https://www.ncbi.nlm.nih.gov/pubmed/35346310 http://dx.doi.org/10.1186/s13039-022-00589-y |