Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.G241delFs
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ACHE

NM_000665.5:p.G241delFs

Associated Papers

Congenital myasthenic syndromes: progress over the past decade.

Engel AG et al.

Muscle & Nerve, 2003

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Ohno K et al.

Current Neurology and Neuroscience Reports, 2002

Congenital myasthenic syndromes.

Engel AG et al.

Advances in Neurology, 2002

Clustering of ALS patients in central Italy due to the occurrence of the L84F SOD1 gene mutation.

Ceroni M et al.

Neurology, 1999

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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."