Open AccessExome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder
Author(s) -
Hajer Foddha,
Seo Go Hun,
Hane Lee,
Zemzem Firas,
Naouar Ines,
A. Boughammoura,
Moez Gribaa,
Khelil Amel Haj
Publication year - 2022
Publication title -
annals of molecular and genetic medicine
Language(s) - English
Resource type - Journals
ISSN - 2692-4595
DOI - 10.17352/amgm.000010
Subject(s) - limb girdle muscular dystrophy , muscular dystrophy , exome sequencing , frameshift mutation , medicine , genetics , exon , biology , mutation , gene
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