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Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients

BACKGROUND: Aplastic anemia (AA) is a bone marrow disorder characterized by peripheral pancytopenia and marrow hypoplasia which can lead to life-threatening complications. Our objective was to study the telomerase genes (TERT and TERC) variants, explore their relationship to telomere shortening and...

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Detalles Bibliográficos
Autores principales:	Sokkar, Mona F., Hamdy, Mona, Erian, Peter SF, Mosaad, Rehab M., Elaraby, Nesma M., Taher, Mohamed B., El-Sayed, Heba, Al Komy, Mohammed, Eid, Maha M., Mohamed, Amal M., Amr, Khalda S., El-Kamah, Ghada Y.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684839/ https://www.ncbi.nlm.nih.gov/pubmed/38017244 http://dx.doi.org/10.1186/s43141-023-00585-8

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