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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GATAD2B

Variant:p.L182P

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GATAD2B

NM_020699.4:p.L182P

hg38:chr1:153818843 A>G

Associated Papers

GATAD2B-related developmental and epileptic encephalopathy (DEE): Extending the epilepsy phenotype and a literature appraisal.

Scorrano G et al.

Epilepsia Open, 2025

39976362 (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."