Varaico: Literature-Extracted Genetic Variants

Gene:DENND5B
Variant:p.R899Q
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DENND5B

NM_144973.4:p.R899Q

Associated Papers

Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.

Winzig F et al.

The Journal of Infectious Diseases, 2025

40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_table_5_gene_hits_in_WES_analysis.xlsx › Sheet2

De novo variants in DENND5B cause a neurodevelopmental disorder.

Scala M et al.

American Journal of Human Genetics, 2024

38387458 (PubMed )
Supplement: mmc7.xlsx › DENND5B_variants_gnomAD_v.4.0_

Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.

Tabansky I et al.

Frontiers in Immunology, 2022

36268024 (PubMed )
Supplement: Table_1.xlsx › Supplementary_Table_1
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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."