Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.Q766_L767Splc
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UNC13D

NM_199242.3:p.Q766_L767Splc

Associated Papers

Clinical and genetic analysis of macrophage activation syndrome complicating juvenile idiopathic inflammatory myopathies.

Li G et al.

Pediatric Research, 2025

Genetic background of primary and familial HLH in Qatar: registry data and population study.

Elgaali E et al.

Frontiers in Pediatrics, 2024

38808104 (PubMed )
Supplement: Table1.pdf
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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."