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NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature

Purvi Majethia, Shivani Mishra, Lakshmi Priya Rao, Raghavendra Rao, Anju Shukla

2021European Journal of Medical Genetics16 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationExome sequencingCompound heterozygosityLeukoencephalopathyGenotypeGeneticsPhenotypeEncephalopathyBiologyMedicinePathologyInternal medicineGeneDiseaseGenetics and Neurodevelopmental DisordersRNA regulation and diseaseMetabolism and Genetic Disorders
NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature | Litcius