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Genetics in Medicine Open
(Jan 2024)
P397: A case of congenital myasthenic syndrome with AChR deficiency due to biallelic variants in CHRNE gene
Aashish Batheja,
Julie Bayer-Vile,
Evan Silverstein,
Natario Couser
Affiliations
Aashish Batheja
Virginia Commonwealth University School of Medicine
Julie Bayer-Vile
Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine
Evan Silverstein
Department of Ophthalmology, Virginia Commonwealth University School of Medicine
Natario Couser
Department of Pediatrics, Virginia Commonwealth University School of Medicine, Children’s Hospital
Journal volume & issue
Vol. 2
p. 101291
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