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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

W. Ku

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2 papers indexed here

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Open access Oct 2026

Diverse PAX6 variants in three Chinese families with congenital aniridia: genotype–phenotype correlations and diagnostic implications

To report three families with congenital aniridia harboring different types of PAX6 variants, analyze their genetic characteristics and genotype–phenotype correlations, and explore the value of a multi-technique combined detection strategy in the molecular diagnosis of aniridia. Systematic ophthalmic e...

W. Ku, Tian-Ying Wei, Jia-Lin Zhang et al. · 0 citations
Open access Sep 2026

Identification of Two Novel Compound Heterozygous ADAMTS17 Variants Associated With Weill-Marchesani Syndrome 4.

Whole-genome sequencing combined with functional splicing validation is essential for resolving molecularly undiagnosed cases of WMS4, particularly when deep intronic variants are suspected, and supports clinical genetic testing and genetic counseling of hereditary connective tissue disorders.

W. Ku, Yi-Feng Xu, S. Jiao et al. · 0 citations

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