Varaico: Literature-Extracted Genetic Variants

Gene:CADM3
Variant:p.Y172C
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CADM3

NM_021189.5:p.Y172C

Associated Papers

Pseudo-Dystonia and Marked Intrafamilial Variability in CADM3-Related Disease.

Coffman K et al.

Pediatric Neurology, 2023

Novel variant in CADM3 causes Charcot-Marie-Tooth disease.

Yalcouyé A et al.

Brain Communications, 2023

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.

Rebelo AP et al.

Brain : a Journal of Neurology, 2021

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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."