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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RANBP2

Variant:p.I1745V

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RANBP2

NM_006267.5:p.I1745V

hg38:chr2:108765772 A>G

Associated Papers

A 5-year-old boy with super-refractory status epilepticus and RANBP2 variant warranting life-saving hemispherotomy.

Straka B et al.

Epilepsia Open, 2024

37943122 (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."