Varaico: Literature-Extracted Genetic Variants

Gene:COG6
Variant:p.A2insFs
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COG6

NM_020751.3:p.A2insFs

Associated Papers

Charcot-Marie-Tooth disease: A case report initially manifested by bilateral vocal cord paralysis.

Mirlohi SH et al.

Respiratory Medicine Case Reports, 2025

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.

Turgut GT et al.

Clinical Genetics, 2024

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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."