Fetal central nervous system anomalies: When should we offer exome sequencing?
To investigate the detection of pathogenic variants using exome sequencing in an international cohort of fetuses with central nervous system (CNS) anomalies. We reviewed trio exome sequencing (ES) results for two previously reported unselected cohorts (Prenatal Assessment of Genomes and Exomes (PAGE...
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| Principais autores: | , , , , , , , , , |
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| Formato: | Revisão |
| Idioma: | Inglês |
| Publicado em: |
2022
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| Acesso em linha: | https://doi.org/10.1002/pd.6145 |
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