Varaico: Literature-Extracted Genetic Variants

Gene:DENND5B
Variant:p.R52K
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DENND5B

NM_144973.4:p.R52K

Associated Papers

Impaired Chylomicron Secretion Results in Reduced Body Fat and Increased Intestinal Fatty Acid Oxidation by Activation of Autophagy.

Neupane KR et al.

Biorxiv : the Preprint Server for Biology, 2025

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

De novo variants in DENND5B cause a neurodevelopmental disorder.

Scala M et al.

American Journal of Human Genetics, 2024

DENND5B Regulates Intestinal Triglyceride Absorption and Body Mass.

Gordon SM et al.

Scientific Reports, 2019

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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."