Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.V216A
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NUP214

NM_005085.4:p.V216A

Associated Papers

[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].

Drenth JP et al.

Nederlands Tijdschrift Voor Geneeskunde, 2006

SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.

Drenth JP et al.

The Journal of Investigative Dermatology, 2005

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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."