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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MFN1

Variant:p.E403K

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MFN1

NM_033540.3:p.E403K

hg38:chr3:179377151 G>A

Associated Papers

R106C TFG variant causes infantile neuroaxonal dystrophy "plus" syndrome.

Catania A et al.

Neurogenetics, 2018

29971521 (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."