Varaico: Literature-Extracted Genetic Variants

Gene:C2orf69
Variant:p.D64E
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C2orf69

NM_153689.6:p.D64E

Associated Papers

Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.

Hammer MF et al.

Epilepsia, 2022

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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."