Varaico: Literature-Extracted Genetic Variants

Gene:LRRC32
Variant:p.A407T
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LRRC32

NM_001128922.2:p.A407T

Associated Papers

Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.

Okamoto R et al.

Plos One, 2020

Targeted Resequencing and Functional Testing Identifies Low-Frequency Missense Variants in the Gene Encoding GARP as Significant Contributors to Atopic Dermatitis Risk.

Manz J et al.

The Journal of Investigative Dermatology, 2016

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.

Alkhiary YM et al.

Saudi Journal of Biological Sciences, 2016

27579005 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

Rivas MA et al.

Nature Genetics, 2011

21983784 (PubMed )
Supplement: NIHMS335188-supplement-1.pdf
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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."