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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAGEL2

Variant:p.F790_A792delins

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MAGEL2

NM_019066.5:p.F790_A792delins

hg38:chr15:23645369 CTGGGA>TCC

Associated Papers

Clinical and Genetic Profiles of 11 Chinese Patients With Angelman Syndrome.

Qu S et al.

Genetics Research, 2025

41438619 (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."