Varaico: Literature-Extracted Genetic Variants

Gene:MAGEL2
Variant:p.P641insFs
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MAGEL2

NM_019066.5:p.P641insFs

Associated Papers

Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.

Chen Y et al.

Seizure, 2025

Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.

French CE et al.

Hgg Advances, 2022

35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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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."