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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BEND2

Variant:p.L302F

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BEND2

NM_153346.5:p.L302F

hg38:chrX:18203502 C>G

Associated Papers

CDKL5 alterations lead to early epileptic encephalopathy in both genders.

Liang JS et al.

Epilepsia, 2011

21770923 (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."