Varaico: Literature-Extracted Genetic Variants

Gene:MUSK
Variant:p.L84P
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MUSK

NM_005592.4:p.L84P

Associated Papers

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.

Muñoz-García MI et al.

Journal of Clinical Medicine, 2023

Congenital Ophthalmoplegia and Late-Onset Limb Weakness Caused by MUSK Mutations.

Ostos F et al.

Journal of Clinical Neuromuscular Disease, 2020

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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."