Erratum to “A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss”
Sign Up to like & getrecommendations! Published in 2017 at "Neural Plasticity"
DOI: 10.1155/2017/9202847
Abstract: [This corrects the article DOI: 10.1155/2016/1512831.]. read more here.
Keywords: novel nonsense; mutation pou4f3; pou4f3 gene; erratum novel ... See more keywords
A novel variant of RBCK1 gene causes mild polyglucosan myopathy.
Sign Up to like & getrecommendations! Published in 2022 at "Neurosciences"
DOI: 10.17712/nsj.2022.1.20210681
Abstract: Homozygous or compound heterozygous pathogenic variants of the RBCK1 gene can result in a systemic disorder characterized by the accumulation of complex carbohydrate molecules, namely polyglucosan bodies in the muscular tissues. The role of this… read more here.
Keywords: gene causes; gene; novel variant; variant rbck1 ... See more keywords