Varaico: Literature-Extracted Genetic Variants

Gene:MPIG6B
Variant:p.R175*
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MPIG6B

NM_138272.3:p.R175*

Associated Papers

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

A Rare MPIG6B Gene Mutation in a Saudi Adolescent Male With Thrombocytopenia, Anemia, and Myelofibrosis: A Case Report.

Alasmari BG et al.

Cureus, 2024

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

Attar LJ et al.

Avicenna Journal of Medicine, 2024

Rare MPIG6B Gene Mutation in an Indian Male with Anemia and Thrombocytopenia

Khan AA et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2022

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

Wang Z et al.

Current Research in Translational Medicine, 2022

ASXL2 mutated myelodysplastic syndrome in a novel germline G6b variant.

Qu S et al.

Leukemia Research Reports, 2022

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

Batis H et al.

Pediatric Blood & Cancer, 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."