Varaico: Literature-Extracted Genetic Variants

Gene:GFI1
Variant:p.R52P
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GFI1

NM_005263.5:p.R52P

Associated Papers

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Horwitz MS et al.

Hematology/oncology Clinics of North America, 2013

Severe congenital neutropenia and the unfolded protein response.

Xia J et al.

Current Opinion in Hematology, 2008

Neutrophil elastase in cyclic and severe congenital neutropenia.

Horwitz MS et al.

Blood, 2007

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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."