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 pedigrees

Kamal Khan, Tahir Naeem Khan, Chunyu Liu et al.|American Journal of Medical Genetics Part A|2021

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