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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNB4

Variant:p.E147K

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CACNB4

NM_000726.5:p.E147K

hg38:chr2:151876508 C>T

Associated Papers

Primary episodic ataxias: diagnosis, pathogenesis and treatment.

Jen JC et al.

Brain : a Journal of Neurology, 2007

17575281 (PubMed )

Calcium channelopathies: voltage-gated calcium channels.

Adams PJ et al.

Sub-cellular Biochemistry, 2007

18193639 (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."