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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RNF13

Variant:p.L311delFs

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RNF13

NM_183381.3:p.L311delFs

hg38:chr3:149960887 CT>C

Associated Papers

A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review.

Zhang Q et al.

Bmc Neurology, 2026

41578212 (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."