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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AP4S1

Variant:p.K56*

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AP4S1

NM_001128126.3:p.K56*

hg38:chr14:31069870 A>T

Associated Papers

A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.

Héron D et al.

Brain : a Journal of Neurology, 2025

40905141 (PubMed )

Supplement: awaf311_supplementary_data.zip › brain-2024-03287-File005.xlsx › Feuil1

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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."