Varaico: Literature-Extracted Genetic Variants

Gene:SETD1B
Variant:p.Q1859*
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SETD1B

NM_001353345.2:p.Q1859*

Associated Papers

SETD1B-associated neurodevelopmental disorder.

Roston A et al.

Journal of Medical Genetics, 2021

A novel de novo frameshift variant in SETD1B causes epilepsy.

Den K et al.

Journal of Human Genetics, 2019

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.

Hiraide T et al.

Human Genetics, 2018

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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."