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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADAM17

Variant:p.L60I

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ADAM17

NM_003183.6:p.L60I

hg38:chr2:9543205 G>T

Associated Papers

Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.

deCampo D et al.

Frontiers in Neurology, 2023

37077567 (PubMed )

Supplement: Data_Sheet_1.pdf

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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."