Data Sheet 1_The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.pdf

<p>This work summarizes 15 years of genetic research on neutropenia in the Polish pediatric cohort, explores the distribution and spectrum of disease-causing genetic variants associated with congenital neutropenia in Poland, and demonstrates the impact of a nationwide information campaign on i...

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第一著者:	Katarzyna Bąbol-Pokora (11710986) (author)
その他の著者:	Weronika Dobrewa (22687418) (author), Marta Bielska (22687421) (author), Szymon Janczar (14892591) (author), Joanna Madzio (22687424) (author), Aleksandra Jaworowska (22687427) (author), Sylwia Kołtan (8955506) (author), Marcin Hennig (22687430) (author), Joanna Renke (22687433) (author), Iwona Dachowska-Kałwak (22687436) (author), Magdalena Cienkusz (22687439) (author), Wojciech Młynarski (3404939) (author)
出版事項:	2025
主題:	Genetic Immunology ELANE neutropenia NGS SBDs immunodeficiencies CYN SCN
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Data Sheet 1_The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.pdf

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