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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

Hisato Suzuki

h-index 17 View on Semantic Scholar

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Sep 2026

Postzygotic NRAS Variants and Subsequent Copy-Neutral Loss of Heterozygosity Underlie Speckled-Pattern Formation in Nevus Spilus-Type Congenital Melanocytic Nevus.

Nevus spilus-type congenital melanocytic nevus (NS-CMN) is characterized by a background brown macule with superimposed black macules or plaques; however, the mechanism underlying speckled-pattern formation in human skin remains unclear. We performed clinicopathological and molecular analyses of three NS-CMN cases usin...

Kana Ueda, A. Yoshioka, Harumi Fujita et al. · 0 citations
Open access Jul 2026

Whole-genome discovery of pathogenic snRNA variants and efficient extended-exome screening

Reanalyzed whole-genome sequencing data from 1,578 unsolved probands and identified pathogenic variants in multiple snRNA genes, including RNU4-2, RNU2-2, RNU5B-1, and RNU4ATAC, and developed an snRNA-extended WES approach by incorporating capture probes targeting 50 snRNA genes into a standard exome design.

Yuka Nakano, Hisato Suzuki, Yukiko Kuroda et al. · 0 citations

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