Varaico: Literature-Extracted Genetic Variants

Gene:VPS45
Variant:p.R386H
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VPS45

NM_007259.5:p.R386H

Associated Papers

SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.

Barreiros LA et al.

Journal of Clinical Immunology, 2022

How we approach: Severe congenital neutropenia and myelofibrosis due to mutations in VPS45.

Shadur B et al.

Pediatric Blood & Cancer, 2019

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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."