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- Title
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees.
- Authors
Khan, Kamal; Mehmood, Sarmad; Liu, Chunyu; Siddiqui, Maimoona; Ahmad, Arsalan; Faiz, Belqees Yawar; Chioza, Barry A.; Baple, Emma A.; Ullah, Muhammad I.; Akram, Zaineb; Satti, Humayoon S.; Khan, Raees; Harlalka, Gaurav V.; Jameel, Muhammad; Akram, Talia; Baig, Shahid M.; Crosby, Andrew H.; Hassan, Muhammad J.; Zhang, Feng; Davis, Erica E.
- Publication
American Journal of Medical Genetics. Part A, 2022, Vol 188, Issue 2, p498
- ISSN
1552-4825
- Publication type
Article
- DOI
10.1002/ajmg.a.62545