Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.I858N
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SCN9A

NM_001365536.1:p.I858N

Associated Papers

Chemical lumbar sympathectomy in the treatment of recalcitrant erythromelalgia.

Wang WH et al.

Journal of Vascular Surgery, 2018

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Analysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond.

Shen Y et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2007

[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

Genetic heterogeneity and exclusion of a modifying locus at 2q in a family with autosomal dominant primary erythermalgia.

Burns TM et al.

The British Journal of Dermatology, 2005

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

Drenth JP et al.

The Journal of Investigative Dermatology, 2005

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.

Yang Y et al.

Journal of Medical Genetics, 2004

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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."