Varaico: Literature-Extracted Genetic Variants

Gene:SEPTIN9
Variant:p.S93F
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SEPTIN9

NM_006640.5:p.S93F

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

Septin-microtubule association via a motif unique to isoform 1 of septin 9 tunes stress fibers.

Kuzmić M et al.

Journal of Cell Science, 2022

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

Grosse GM et al.

Bmc Medical Genetics, 2020

Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.

Neubauer K et al.

Cytoskeleton (hoboken, N.j.), 2019

SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.

Hannibal MC et al.

Neurology, 2009

Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.

Landsverk ML et al.

Human Molecular Genetics, 2009

Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.

Laccone F et al.

Clinical Genetics, 2008

SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.

Sudo K et al.

Human Mutation, 2007

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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."