AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
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Establishment of induced pluripotent stem cell line TRNDi045-A-38 carrying homozygous DOK7-related Congenital Myasthenia patient-mutation knock-in variant from parental KOLF2.1J.
A human induced pluripotent stem cell line TRNDi045-A-38 from the KOLF2.1J reference line is generated, engineered to carry homozygous DOK7 c.1124_1127dupTGCC mutation knock-in using CRISPR/Cas9, and could be used for in vitro disease modeling to study disease pathophysiology and for therapeutic development.
An inherited hypomorphic variant in PIEZO2 reveals structural features of mechanotransduction.
By explaining how a single amino acid change produces a hypomorphic PIEZO2 allele, the findings broaden the clinical spectrum of PIEZO2 disorders and offer structural insight into mechanotransduction.