Varaico: Literature-Extracted Genetic Variants

Gene:JAGN1
Variant:p.H44Y
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JAGN1

NM_032492.4:p.H44Y

Associated Papers

Flavopiridol restores granulopoiesis in experimental models of severe congenital neutropenia.

Nasri M et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.

Fekadu-Siebald J et al.

Blood Advances, 2025

39775668 (PubMed )
Supplement: BLOODA_ADV-2024-014344-mmc1.pdf

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

Hojabri M et al.

Bmc Pediatrics, 2023

Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review.

Thomas S et al.

Frontiers in Pediatrics, 2023

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

Çipe FE et al.

The Turkish Journal of Pediatrics, 2020

JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family.

Baris S et al.

Journal of Clinical Immunology, 2015

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

Boztug K et al.

Nature Genetics, 2014

HAX1 mutation in an infant with severe congenital neutropenia.

Eghbali A et al.

The Turkish Journal of Pediatrics, 0

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