Varaico: Literature-Extracted Genetic Variants

Gene:MPIG6B
Variant:p.G157R
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MPIG6B

NM_138272.3:p.G157R

Associated Papers

MPIG6B Gene-Related Myelofibrosis: A Rare Inherited Disease That Is Frequently Described in Arab Population.

Attar LJ et al.

Avicenna Journal of Medicine, 2024

A novel MPIG6B gene mutation in an adolescent girl with congenital thrombocytopenia and myelofibrosis.

Wang Z et al.

Current Research in Translational Medicine, 2022

Detrimental variants in MPIG6B in two children with myelofibrosis: Does immune dysregulation contribute to myelofibrosis?

Batis H et al.

Pediatric Blood & Cancer, 2021

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice.

Hofmann I et al.

Blood, 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."