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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FASTKD2

Variant:p.L270insFs

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FASTKD2

NM_001136193.2:p.L270insFs

hg38:chr2:206770122 T>TTTTCAGTTTTG

Associated Papers

Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.

Wei X et al.

Human Mutation, 2020

31944455 (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."