Varaico: Literature-Extracted Genetic Variants

Gene:MASTL
Variant:p.E167D
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MASTL

NM_001172303.3:p.E167D

Associated Papers

Inherited thrombocytopenias: history, advances and perspectives.

Nurden AT et al.

Haematologica, 2020

MASTL promotes cell contractility and motility through kinase-independent signaling.

Taskinen ME et al.

The Journal of Cell Biology, 2020

The Cell Cycle Checkpoint System MAST(L)-ENSA/ARPP19-PP2A is Targeted by cAMP/PKA and cGMP/PKG in Anucleate Human Platelets.

Kumm EJ et al.

Cells, 2020

Thrombocytopenia-associated mutations in Ser/Thr kinase MASTL deregulate actin cytoskeletal dynamics in platelets.

Hurtado B et al.

The Journal of Clinical Investigation, 2018

[Mutation of ANKRD26 is responsible for thrombocytopenia 2 (THC2) : a family report in China].

Liu XF et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

Inherited thrombocytopenias frequently diagnosed in adults.

Balduini CL et al.

Journal of Thrombosis and Haemostasis : Jth, 2013

In vivo inactivation of MASTL kinase results in thrombocytopenia.

Johnson HJ et al.

Experimental Hematology, 2009

FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10.

Gandhi MJ et al.

Human Heredity, 2003

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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."