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1 Ergebnisse
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A recurrent rare intronic variant in CAPN3 alters mRNA spli..:
Khan, Kamal
;
Mehmood, Sarmad
;
Liu, Chunyu
...
American Journal of Medical Genetics Part A. 188 (2021) 2 - p. 498-508 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62545
RT Journal T1 <Title>A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62545&Exemplar=1&LAN=DE A1 Khan, Kamal A1 Mehmood, Sarmad A1 Liu, Chunyu A1 Siddiqui, Maimoona A1 Ahmad, Arsalan A1 Faiz, Belqees Yawar A1 Chioza, Barry A. A1 Baple, Emma A. A1 Ullah, Muhammad I. A1 Akram, Zaineb A1 Satti, Humayoon S. A1 Khan, Raees A1 Harlalka, Gaurav V. A1 Jameel, Muhammad A1 Akram, Talia A1 Baig, Shahid M. A1 Crosby, Andrew H. A1 Hassan, Muhammad J. A1 Zhang, Feng A1 Davis, Erica E. A1 Khan, Tahir N. PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 2 SP 498 OP 508 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62545 DO https://doi.org/10.1002/ajmg.a.62545 SF ELIB - SuUB Bremen
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