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Analysis of autosomal dominant genes impacted by copy number loss in 24,844 fetuses without structural abnormalities
BACKGROUND: The broad application of high-resolution chromosome detection technology in prenatal diagnosis has identified copy number loss (CNL) involving autosomal dominant (AD) genes in certain fetuses. Exon sequencing of fetuses exhibiting structural anomalies yields diagnostic information in up...
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/PMC8812209/ https://www.ncbi.nlm.nih.gov/pubmed/35109792 http://dx.doi.org/10.1186/s12864-022-08340-y |