Varaico: Literature-Extracted Genetic Variants

Gene:ATP4A
Variant:p.P211A
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ATP4A

NM_000704.3:p.P211A

Associated Papers

Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis.

Maselli RA et al.

Muscle & Nerve, 2003

The spectrum of congenital myasthenic syndromes.

Engel AG et al.

Molecular Neurobiology, 0

Congenital myasthenic syndromes: A diverse array of molecular targets.

Engel AG et al.

Journal of Neurocytology, 0

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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."