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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SUZ12

Variant:p.P214A

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SUZ12

NM_015355.4:p.P214A

hg38:chr17:31975530 C>G

Associated Papers

Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.

Imagawa E et al.

Clinical Genetics, 2023

36645289 (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."