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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

M. Haanpää

h-index 12 View on Semantic Scholar

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Case report Open access Sep 2026

Neurofibromatosis 1 (NF1) gene testing reveals rising variant allele fraction as an early warning sign of juvenile myelomonocytic leukemia.

This case highlights the importance of genetic testing in establishing an NF1 diagnosis in young children, and an increasing variant allele fraction may signal an emerging JMML, and early testing can provide a critical time window for timely and effective treatment.

S. Peltonen, Christian Johansson, Marika H. Grönroos et al. · 0 citations
Open access Aug 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.

Molly Godfrey, Michael A. Levy, Christopher Campbell et al. · 0 citations

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