Varaico: Literature-Extracted Genetic Variants

Gene:AGR2
Variant:p.P71T
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AGR2

NM_006408.4:p.P71T

Associated Papers

A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.

Takada S et al.

Journal of Clinical Immunology, 2024

The genetics of monogenic intestinal epithelial disorders.

Babcock SJ et al.

Human Genetics, 2023

Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.

Zonic E et al.

Genetics in Medicine Open, 2023

A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.

Bertoli-Avella A et al.

Journal of Medical Genetics, 2022

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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."