Case Report: Identification of a Novel Pathogenic Germline TP53 Variant in a Family With Li–Fraumeni Syndrome
Li–Fraumeni syndrome (LFS) is an inherited autosomal dominant disease characterized by a predisposition to many cancers. Germline pathogenic variants in TP53 are primarily responsible for LFS. By performing a targeted sequencing panel in a proband with liver carcinoma having a deceased son affected...
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| Asıl Yazarlar: | , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Frontiers Media S.A.
2021-09-01
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| Seri Bilgileri: | Frontiers in Genetics |
| Konular: | |
| Online Erişim: | https://www.frontiersin.org/articles/10.3389/fgene.2021.734809/full |
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