Article

Novel homozygous mutation in DYSF gene with limb-girdle muscular dystrophy type 2B through whole exome sequencing in Iran

2023-08-28

Abstract excerpt

Limb-girdle muscular dystrophy (LGMD) is a type of genetically heterogeneous disorders. The goal of current training is discovering novel mutations or deletion in an Iranian family with limb-girdle muscular dystrophy type 2B patient by whole exome sequencing. Exome sequencing was completed, as well as complete physical examinations of the family. Then, in silico studies have been done to discovery the change that...

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Literature Corpus work: 2bba55f1-5a29-577a-a81f-1c1f92a5d1fd
DOI: 10.21203/rs.3.rs-3281826/v1

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