Varaico: Literature-Extracted Genetic Variants

Gene:MPIG6B
Variant:p.W44C
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MPIG6B

NM_138272.3:p.W44C

Associated Papers

Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestry.

Yenwongfai LN et al.

Pediatric Blood & Cancer, 2023

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.

Almazni I et al.

Human Mutation, 2020

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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."