Varaico: Literature-Extracted Genetic Variants

Gene:AGRN
Variant:p.A1768P
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AGRN

NM_198576.4:p.A1768P

Associated Papers

Congenital myasthenic syndrome-associated agrin variants affect clustering of acetylcholine receptors in a domain-specific manner.

Ohkawara B et al.

Jci Insight, 2020

Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.

Wang A et al.

Frontiers in Neurology, 2020

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome.

Xi J et al.

Orphanet Journal of Rare Diseases, 2017

A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle.

Zhang Y et al.

Chinese Medical Journal, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."