ArticleInternational journal of molecular sciences2026
Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.
Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Whole Genome Sequencing as First Diagnostic Approach for Inborn Errors of Immunity in Adults: Diagnostic Yield and Clinical Correlations.International journal of molecular sciences · 2026Article
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6 authors.
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Abstract
More than 30 distinct genetic entities associated with severe congenital neutropenia (SCN) have been described. SCN has a risk of clonal expansion of mutated hematopoietic cells. Jagunal homolog 1 (JAGN1) deficiency has been described as a genetic cause of SCN and is now estimated to account for approximately 10% of all SCN cases. One prevalent variant in patients with JAGN1 deficiency is NM_032492.4:c.63G>T (p.Glu21Asp). The clinical description and disease evolution study of Romanian patients with JAGN1 deficiency caused by the
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