Varaico: Literature-Extracted Genetic Variants

Gene:AGR2
Variant:p.H117Y
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AGR2

NM_006408.4:p.H117Y

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

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

Bertoli-Avella A et al.

Journal of Medical Genetics, 2022

Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease.

Al-Shaibi AA et al.

Cellular and Molecular Gastroenterology and Hepatology, 2021

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