Varaico: Literature-Extracted Genetic Variants

Gene:GSDMA
Variant:p.V128L
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GSDMA

NM_178171.5:p.V128L

Associated Papers

Exome variants associated with asthma and allergy.

Wjst M

Scientific Reports, 2022

36470944 (PubMed )
Supplement: 41598_2022_24960_MOESM1_ESM.pdf

Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Guggenheim JA et al.

Human Molecular Genetics, 2022

35022715 (PubMed )
Supplement: hmg_r2_supplement_ddac004.pdf

A novel role for CRIM1 in the corneal response to UV and pterygium development.

Maurizi E et al.

Experimental Eye Research, 2019

A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis.

Panganiban RA et al.

The Journal of Allergy and Clinical Immunology, 2018

Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.

Parker GJ et al.

Plos One, 2016

27603779 (PubMed )
Supplement: pone.0160653.s004.pdf

Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility, atopy and BHR.

Yu J et al.

Pediatric Pulmonology, 2011

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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."