Carregant...
17p13.3 quadruplication: a prenatal and postpartum clinical characterization of a copy number variant
Prenatal genetic testing has advanced rapidly in the past decade. However, not all results, including variants, are well understood. We report the finding of a 2.5-Mb gene region quadruplication of Chromosome 17p13.3. This region is well characterized for the deletion leading to Miller–Dieker syndro...
Guardat en:
| Publicat a: | Cold Spring Harb Mol Case Stud |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Cold Spring Harbor Laboratory Press
2018
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5983170/ https://ncbi.nlm.nih.gov/pubmed/29858378 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002196 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|