Laxmi Parida, Pier F. Palamara, et al.
BMC Bioinformatics
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
Workshop
AI for Drug Discovery
Marianna Rapsomaniki, Jannis Born, et al.
AMLD EPFL 2024
Giorgia Dellaferrera, Stanisław Woźniak, et al.
Nature Communications
Helgi I. Ingolfsson, Chris Neale, et al.
PNAS