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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDAP1

Variant:p.R341_L344del4

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GDAP1

NM_018972.4:p.R341_L344del4

hg38:chr8:74364310 CAGAAAGAGGCTT>C

Associated Papers

Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

Cassereau J et al.

Experimental Neurology, 2011

20849849 (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."