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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DDX17

Variant:p.R161fs

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DDX17

NM_006386.5:p.R161fs

hg38:chr22:38499457 CCT>N

Associated Papers

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Seaby EG et al.

Brain : a Journal of Neurology, 2025

39405200 (PubMed )

Supplement: awae320_supplementary_data.zip › brain-2023-02565-File009.xlsx › PatientInfo

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