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Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder

<p>Muscular dystrophy (MD) is a heterogeneous group of diseases that cause progressive weakness and loss of muscle mass. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. We report here a case of a Tunisian patient...

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Autor principal:	Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder (Autor)
Format:	Llibre
Publicat:	Annals of Molecular and Genetic Medicine - Peertechz Publications, 2022-09-27.
Matèries:	Research Article
Accés en línia:	Connect to this object online.
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