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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

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Neta Barnoy

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Open access Sep 2026

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

Inherited retinal diseases (IRDs) are genetically heterogeneous and often remain unsolved despite advanced sequencing. This study investigated two siblings from a consanguineous Arab-Christian family presenting with a syndromic IRD. Exome sequencing revealed a homozygous frameshift variant (c.1535_1538del:(p.Lys512Argf...

Asodu Sandeep Sarma, Neta Barnoy, P. Gopalakrishnan et al. · 0 citations

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