Varaico: Literature-Extracted Genetic Variants

Gene:DENND5B
Variant:p.L839F
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DENND5B

NM_144973.4:p.L839F

Associated Papers

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_

DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Jung H et al.

Nature Communications, 2019

31537801 (PubMed )
Supplement: 41467_2019_12159_MOESM8_ESM.xlsx › Sheet1
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