Varaico: Literature-Extracted Genetic Variants

Gene:SETD1A
Variant:p.G1369R
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SETD1A

NM_014712.3:p.G1369R

Associated Papers

Case report: De novo variant of SETD1A causes infantile epileptic spasms syndrome.

Lan M et al.

Frontiers in Neurology, 2023

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Owen MJ et al.

Nature Communications, 2022

SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders.

Wang S et al.

Frontiers in Molecular Neuroscience, 2021

De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.

Yu X et al.

Neuroscience Bulletin, 2019

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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."