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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD8

Variant:p.Q1248*

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CHD8

NM_001170629.2:p.Q1248*

hg38:chr14:21402476 G>A

Associated Papers

Pluripotent stem cell-derived models of neurological diseases reveal early transcriptional heterogeneity.

Sorek M et al.

Genome Biology, 2021

33663567 (PubMed )

Supplement: 13059_2021_2301_MOESM6_ESM.docx

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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."