Varaico: Literature-Extracted Genetic Variants

Gene:CSF3
Variant:p.L44L
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CSF3

NM_172219.3:p.L44L

Associated Papers

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

Velez-Tirado N et al.

Scandinavian Journal of Immunology, 2022

A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.

Çipe FE et al.

The Turkish Journal of Pediatrics, 2020

HAX1 mutation in an infant with severe congenital neutropenia.

Eghbali A et al.

The Turkish Journal of Pediatrics, 0

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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."