The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt
Article in Human Genetics and Genomics Advances (April 2024)
The most recent citing publications are shown below. View all 7 publications that cite this research output on Dimensions.
Novel compound missense variants in MUSK impair LRP4-MUSK-DOK7 complex associated with congenital myasthenic syndrome 9 and insights into genotype-phenotype correlation
Preprint in Research Square (July 2023)
Vocal Cord Paralysis and Feeding Difficulties as Early Diagnostic Clues of Congenital Myasthenic Syndrome with Neonatal Onset: A Case Report and Review of Literature
Article in Journal of Personalized Medicine (May 2023)