Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.L49M
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ITGB2

NM_000211.5:p.L49M

Associated Papers

Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.

Glessner JT et al.

Journal of Hepatology, 2023

37572794 (PubMed )
Supplement: NIHMS1945785-supplement-MMC2.xlsx › Table_S1

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

The role of p.Val444Ala variant in the ABCB11 gene and susceptibility to biliary atresia in Vietnamese patients.

Van Tung N et al.

Medicine, 2021

Epistatic Association of CD14 and NOTCH2 Genetic Polymorphisms with Biliary Atresia in a Southern Chinese Population.

Lin Z et al.

Molecular Therapy. Nucleic Acids, 2018

Association between single nucleotide polymorphisms in the ADD3 gene and susceptibility to biliary atresia.

Zeng S et al.

Plos One, 2014

Polymorphism of ITGB2 gene 3'-UTR+145C/A is associated with biliary atresia.

Zhao R et al.

Digestion, 2013

The ITGB2 immunomodulatory gene (CD18), enterocolitis, and Hirschsprung's disease.

Moore SW et al.

Journal of Pediatric Surgery, 2008

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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."