A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism
LNH Dofash, GV Monahan… - Human molecular …, 2023 - academic.oup.com
Abstract Nemaline myopathy 8 (NEM8) is typically a severe autosomal recessive disorder
associated with variants in the kelch-like family member 40 gene (KLHL40). Common …
associated with variants in the kelch-like family member 40 gene (KLHL40). Common …