Varaico: Literature-Extracted Genetic Variants

Gene:DPYSL5
Variant:p.E25K
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DPYSL5

NM_020134.4:p.E25K

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

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.

Desprez F et al.

Molecular Psychiatry, 2025

The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Punta M et al.

Frontiers in Immunology, 2020

33133066 (PubMed )
Supplement: Table_1.xlsx › Passengers
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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."