Detalhe da pesquisa
1.
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Am J Med Genet A
; 188(2): 498-508, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697879