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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HADHB

Variant:p.A381insFs

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HADHB

NM_000183.3:p.A381insFs

hg38:chr2:26284196 G>GCTTT

Associated Papers

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Veeramah KR et al.

Epilepsia, 2013

23647072 (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."