Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.M133I
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GDAP1

NM_018972.4:p.M133I

Associated Papers

Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1.

Sutinen A et al.

Febs Open Bio, 2022

35509130 (PubMed )
Supplement: FEB4-12-1306-s001.xlsx › All_mutations

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
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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."