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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HECW2

Variant:p.K1207_G1208del1

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HECW2

NM_001348768.2:p.K1207_G1208del1

hg38:chr2:196242109 ATCC>A

Associated Papers

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF et al.

American Journal of Human Genetics, 2017

29100083 (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."