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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:POGZ

Variant:p.A1288V

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POGZ

NM_015100.4:p.A1288V

hg38:chr1:151405172 G>A

Associated Papers

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.

Matsumura K et al.

Nature Communications, 2020

32103003 (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."