Varaico: Literature-Extracted Genetic Variants

Gene:AGRN
Variant:p.L74insFs
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AGRN

NM_198576.4:p.L74insFs

Associated Papers

Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation.

Jiang L et al.

Pharmacogenomics and Personalized Medicine, 2023

Limb-girdle congenital myasthenic syndrome in a Chinese family with novel mutations in MUSK gene and literature review.

Luan X et al.

Clinical Neurology and Neurosurgery, 2016

186th ENMC international workshop: congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.

Chaouch A et al.

Neuromuscular Disorders : Nmd, 2012

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