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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POLR3B

Variant:p.Q399delFs

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POLR3B

NM_018082.6:p.Q399delFs

hg38:chr12:106427291 AG>A

Associated Papers

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Ohno K et al.

Current Neurology and Neuroscience Reports, 2002

11898587 (PubMed )

Congenital myasthenic syndromes.

Engel AG et al.

Advances in Neurology, 2002

11908226 (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."