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

Author

Kushagra Agarwal

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Open access Aug 2026

An Integrated Whole-Genome Sequencing and In-House Targeted Testing Strategy Enhances Comprehensive Mutation Detection in Neurofibromatosis Type 1.

This is the largest genetically confirmed Indian NF1 cohort reported, expanding the known mutational spectrum and demonstrating the utility of whole-genome sequencing for unresolved cases, as well as highlighting the clinical and genetic heterogeneity of NF1.

Rekha Aaron, Kushagra Agarwal, A. Chapla et al. · 0 citations

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