Mirvat El-Sibai, Daniel E. Platt, et al.
Annals of Human Genetics
Paper
Validation of GNE:p.M712T identification by melting curve analysis
Abstract
Hereditary inclusion body myopathy/distal myopathy with rimmed vacuoles is an adult onset autosomal recessive muscle-wasting disease common in people of Iranian-Jewish descent, due to the founder allelic variant GNE
Related
Roger D. Traub, Miles A. Whittington, et al.
Reviews in the Neurosciences
Kahn Rhrissorrakrai, Filippo Utro, et al.
bioRxiv
Laxmi Parida
Journal of Computational Biology