Varaico: Literature-Extracted Genetic Variants

Gene:GSDME
Variant:p.E347G
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GSDME

NM_001127453.2:p.E347G

Associated Papers

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.

Kanazawa N et al.

Nature Communications, 2021

34819510 (PubMed )
Supplement: 41467_2021_27085_MOESM1_ESM.pdf

Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Harmancı AS et al.

Nature Communications, 2017

28195122 (PubMed )
Supplement: ncomms14433-s3.xlsx › Table_S2D

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES
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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."