Varaico: Literature-Extracted Genetic Variants

Gene:MTMR2
Variant:p.L448P
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MTMR2

NM_016156.6:p.L448P

Associated Papers

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.

Cakar A et al.

European Journal of Neurology, 2025

39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1

Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.

Guerrero-Valero M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M et al.

Neurogenetics, 2015

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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."