Varaico: Literature-Extracted Genetic Variants

Gene:GSDMB
Variant:p.G291R
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GSDMB

NM_001042471.2:p.G291R

Associated Papers

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

FinnGen provides genetic insights from a well-phenotyped isolated population.

Kurki MI et al.

Nature, 2023

36653562 (PubMed )
Supplement: 41586_2022_5473_MOESM4_ESM.xlsx › Supplementary_Table_8

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.

Young WJ et al.

Nature Communications, 2022

36050321 (PubMed )
Supplement: 41467_2022_32821_MOESM4_ESM.xlsx › Data_12a

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

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2

Detection and interpretation of shared genetic influences on 42 human traits.

Pickrell JK et al.

Nature Genetics, 2016

27182965 (PubMed )
Supplement: NIHMS780506-supplement-5.pdf

Ethnic-specific associations of rare and low-frequency DNA sequence variants with asthma.

Igartua C et al.

Nature Communications, 2015

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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."