Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.R486G
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PKLR

NM_000298.6:p.R486G

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

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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."