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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNA1G

Variant:p.L1793_T1794del2

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CACNA1G

NM_018896.5:p.L1793_T1794del2

hg38:chr17:50618291 TCCTAAC>T

Associated Papers

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.

Helbig I et al.

Annals of Clinical and Translational Neurology, 2020

32666661 (PubMed )

Supplement: ACN3-7-1429-s001.docx

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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."