Varaico: Literature-Extracted Genetic Variants

Gene:AICDA
Variant:p.R107W
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AICDA

NM_020661.4:p.R107W

Associated Papers

Disease related single point mutations alter the global dynamics of a tetratricopeptide (TPR) α-solenoid domain.

Llabrés S et al.

Journal of Structural Biology, 2020

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Mersiyanova IV et al.

Human Mutation, 2000

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

Rouger H et al.

Human Mutation, 1997

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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."