Varaico: Literature-Extracted Genetic Variants

Gene:DENND5A
Variant:p.T1039N
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DENND5A

NM_015213.4:p.T1039N

Associated Papers

Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.

Torbati PN et al.

Pediatric Neurology, 2026

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Banks E et al.

Nature Communications, 2024

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.

Banks E et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."