A recurrent rare intronic variant in <scp><i>CAPN3</i></scp> alters <scp>mRNA</scp> splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigreesKamal Khan, Tahir Naeem Khan, Sarmad Mehmood et al.|American Journal of Medical Genetics Part A|2021Cited by 4
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genesAyaz Khan, Chunyu Liu, Muhammad Safeer et al.|Molecular Genetics and Genomics|2022Cited by 4