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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDAP1

Variant:p.E114_S115del1

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GDAP1

NM_018972.4:p.E114_S115del1

hg38:chr8:74360166 GAAA>G

Associated Papers

Digenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.

Shumeri E et al.

Journal of the Peripheral Nervous System : Jpns, 2025

40588830 (PubMed )

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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."