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Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients

Prateek Kumar Panda, Indar Kumar Sharawat, Kriti Joshi, Lesa Dawman, Rishi Bolia

2020Brain and Development13 citationsDOI

Topics & Concepts

Intellectual disabilityEpilepsyFrameshift mutationExome sequencingHypotoniaCopy-number variationAutismGeneticsNonsenseMedicineBiologyPediatricsPsychiatryPhenotypeGeneGenomeGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesUbiquitin and proteasome pathways
Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients | Litcius