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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ICA1L

Variant:p.E61delFs

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ICA1L

NM_001288622.3:p.E61delFs

hg38:chr2:202825747 CT>C

Associated Papers

Progressive myoclonic epilepsy with Fanconi syndrome.

Seaby EG et al.

Jrsm Open, 2016

27293772 (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."