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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:APBA1

Variant:p.Q833*

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APBA1

NM_001163.4:p.Q833*

hg38:chr9:69431344 G>A

Associated Papers

Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.

Yahia A et al.

Human Genetics, 2024

38300321 (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."