Varaico: Literature-Extracted Genetic Variants

Gene:MLKL
Variant:p.Q48*
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MLKL

NM_152649.4:p.Q48*

Associated Papers

A common human MLKL polymorphism confers resistance to negative regulation by phosphorylation.

Garnish SE et al.

Nature Communications, 2023

Genetics of Alzheimer's disease: an East Asian perspective.

Miyashita A et al.

Journal of Human Genetics, 2023

Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Liu ZX et al.

Jama Network Open, 2022

36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S2

Whole-genome sequencing reveals novel ethnicity-specific rare variants associated with Alzheimer's disease.

Shigemizu D et al.

Molecular Psychiatry, 2022

Rare catastrophes and evolutionary legacies: human germline gene variants in MLKL and the necroptosis signalling pathway.

Garnish SE et al.

Biochemical Society Transactions, 2022

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

Hildebrand JM et al.

Nature Communications, 2020

Genetic Analyses of Alzheimer's Disease in China: Achievements and Perspectives.

Zhang DF et al.

Acs Chemical Neuroscience, 2019

A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population.

Wang B et al.

Neurobiology of Aging, 2018

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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."