Varaico: Literature-Extracted Genetic Variants

Gene:WNT2B
Variant:p.R69*
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WNT2B

NM_024494.3:p.R69*

Associated Papers

WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production.

O'Connell AE et al.

Cellular and Molecular Gastroenterology and Hepatology, 2024

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Ouahed J et al.

Journal of Crohn's & Colitis, 2021

Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis.

Zhang YJ et al.

European Journal of Human Genetics : Ejhg, 2021

Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations.

O'Connell AE et al.

American Journal of Human Genetics, 2018

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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."