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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FASTKD2

Variant:p.L270ins2

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FASTKD2

NM_001136193.2:p.L270ins2

hg38:chr2:206770121 C>CTTTCAG

Associated Papers

A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease.

Astner-Rohracher A et al.

Frontiers in Neurology, 2022

36712458 (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."