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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PREPL

Variant:p.V188M

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PREPL

NM_001171613.2:p.V188M

hg38:chr2:44339287 C>T

Associated Papers

Inherited disorders of the neuromuscular junction: an update.

Rodríguez Cruz PM et al.

Journal of Neurology, 2014

25305004 (PubMed )

Congenital myasthenic syndromes and the neuromuscular junction.

Rodríguez Cruz PM et al.

Current Opinion in Neurology, 2014

25159927 (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."