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Germline variant in REXO2 is a novel candidate gene in familial pheochromocytoma
Pheochromocytoma (PCC) is a rare, mostly benign tumour of the adrenal medulla. Hereditary PCC accounts for ~35% of cases and has been associated with germline mutations in several cancer susceptibility genes (e.g., KIF1B, SDHB, VHL, SDHD, RET). We performed whole-exome sequencing in a family with fo...
Autores principales: | Laitman, Yael, Tzur, Shay, Attai, Ruben, Tirosh, Amit, Friedman, Eitan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cambridge University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7214532/ https://www.ncbi.nlm.nih.gov/pubmed/32354376 http://dx.doi.org/10.1017/S0016672320000038 |
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