Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations
Mohammad Vafaee‐Shahi, Mohammad Farhadi, Ehsan Razmara, Saeid Morovvati, Saeide Ghasemi, Seyedeh Sedigheh Abedini, Zohreh Bagher, Rafieh Alizadeh, Masoumeh Falah
Topics & Concepts
Sanger sequencingMissense mutationGeneticsGenotypePhenotypeGenotype-phenotype distinctionBiologyGenetic heterogeneityExome sequencingBioinformaticsMutationGeneMitochondrial Function and PathologyGenomics and Rare DiseasesMetalloenzymes and iron-sulfur proteins