Varaico: Literature-Extracted Genetic Variants

Gene:SETD1B
Variant:p.K1827R
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SETD1B

NM_001353345.2:p.K1827R

Associated Papers

SETD1B variants associated with absence seizures.

Zhang G et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Weerts MJA et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."