Varaico: Literature-Extracted Genetic Variants

Gene:MLKL
Variant:p.G316D
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MLKL

NM_152649.4:p.G316D

Associated Papers

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

Garnish SE et al.

Nature Communications, 2023

Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity.

Li M et al.

Reviews in Endocrine & Metabolic Disorders, 2023

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 family harboring an MLKL loss of function variant implicates impaired necroptosis in diabetes.

Hildebrand JM et al.

Cell Death & Disease, 2021

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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."