Varaico: Literature-Extracted Genetic Variants

Gene:PMP22
Variant:p.A35T
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PMP22

NM_000304.4:p.A35T

Associated Papers

Persistent toe walking as a prominent feature in pediatric PMP22- Related neuropathies: A retrospective cohort study.

Pomarino D et al.

Global Medical Genetics, 2025

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.

Ceylan GG et al.

Revista Da Associacao Medica Brasileira (1992), 2023

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations.

Østern R et al.

Bmc Medical Genetics, 2014

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ

Acta Neurologica Scandinavica. Supplementum, 2012

[The glucose-pyruvate test in Friedreich's ataxia and Charcot-Marie-Tooth disease].

Reggio A et al.

Acta Neurologica, 1981

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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."