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A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
Abu Shtaya A, Kedar I, Bazak L, Basel-Salmon L, Barhom SF, Naftali M, Eskin-Schwartz M, Birk OS, Polager-Modan S, Keidar N, Reznick Levi G, Levi Z, Yablonski-Peretz T, Mahamid A, Segol O, Matar R, Bareli Y, Azoulay N, Goldberg Y. Abu Shtaya A, et al. Genes (Basel). 2024 Mar 13;15(3):355. doi: 10.3390/genes15030355. Genes (Basel). 2024. PMID: 38540414 Free PMC article. Review.
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.
Abu Shtaya A, Kedar I, Mattar S, Mahamid A, Basel-Salmon L, Farage Barhom S, Naftaly Nathan S, Magal N, Azulay N, Levy Zalcberg M, Chen-Shtoyerman R, Segol O, Seri M, Reznick Levi G, Shkedi-Rafid S, Vinkler C, Netzer I, Hagari Bechar O, Chamma L, Liberman S, Goldberg Y. Abu Shtaya A, et al. Cancers (Basel). 2023 Dec 24;16(1):94. doi: 10.3390/cancers16010094. Cancers (Basel). 2023. PMID: 38201524 Free PMC article.