Varaico: Literature-Extracted Genetic Variants

Gene:GSDMD
Variant:p.D275H
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GSDMD

NM_024736.7:p.D275H

Associated Papers

Exploring the genetic alterations of Gorham-Stout disease.

Pagliarosi O et al.

Frontiers in Endocrinology, 2025

Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family.

Uehara DT et al.

Jbmr Plus, 2023

Human polymorphisms in GSDMD alter the inflammatory response.

Rathkey JK et al.

The Journal of Biological Chemistry, 2020

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