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

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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Autore principale: Katarzyna Bąbol-Pokora (11710986) (author)
Altri autori: 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)
Pubblicazione: 2025
Soggetti:
Genetic Immunology
ELANE
neutropenia
NGS
SBDs
immunodeficiencies
CYN
SCN
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