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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SETD1A

Variant:p.P1310_A1314delFs

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SETD1A

NM_014712.3:p.P1310_A1314delFs

hg38:chr16:30979715 CCCCTGCGCCAG>C

Associated Papers

Genome Sequencing of Idiopathic Speech Delay.

Eising E et al.

Human Mutation, 2024

40225914 (PubMed )

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

Wang S et al.

Frontiers in Molecular Neuroscience, 2021

34803610 (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."