Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1
Variant:p.Y35_V43del9
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JAGN1

NM_032492.4:p.Y35_V43del9

Associated Papers

JAGN1 mutation with distinct clinical features; two case reports and literature review.

Hojabri M et al.

Bmc Pediatrics, 2023

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."