Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN9
Variant:p.V469A
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SEPTIN9

NM_006640.5:p.V469A

Associated Papers

Case Report: Parsonage-Turner syndrome due to SEPTIN9 mutation: report of an Italian family with childhood onset and review of the literature.

Bosisio L et al.

Frontiers in Pediatrics, 2025

Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.

Grosse GM et al.

Bmc Medical Genetics, 2020

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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."