Varaico: Literature-Extracted Genetic Variants

Gene:ACHE
Variant:p.A423delFs
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ACHE

NM_000665.5:p.A423delFs

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

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Abicht A et al.

Neurology, 1999

Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome.

Croxen R et al.

Annals of Neurology, 1999

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."