Varaico: Literature-Extracted Genetic Variants

Gene:CXCR2
Variant:p.R144C
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CXCR2

NM_001557.4:p.R144C

Associated Papers

CXCR2 deficiency with myelokathexis caused by a novel variant: correction via CRISPR/Cas9.

Hinke DM et al.

Haematologica, 2026

Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing.

Klimiankou M et al.

Haematologica, 2024

Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity.

Marin-Esteban V et al.

Haematologica, 2022

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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."