Varaico: Literature-Extracted Genetic Variants

Gene:GSDMA
Variant:p.V128L
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GSDMA

NM_178171.5:p.V128L

Associated Papers

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."