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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG2

Variant:p.E186V

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ALG2

NM_033087.4:p.E186V

hg38:chr9:99218628 T>A

Associated Papers

Genetic basis and phenotypic features of congenital myasthenic syndromes.

Engel AG

Handbook of Clinical Neurology, 2018

29478601 (PubMed )

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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."