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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKN

Variant:p.E444insFs

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PRKN

NM_004562.3:p.E444insFs

hg38:chr6:161350164 A>AC

Associated Papers

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F-box domain.

Muhammad A et al.

Epilepsia Open, 2026

41685408 (PubMed )

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