Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L248P
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UNC13D

NM_199242.3:p.L248P

Associated Papers

A Nationwide Analysis of the Phenotype/Genotype Landscape of Hemophagocytic Lymphohistiocytosis: UNC13D Associates with Poor Prognosis.

Brik Simon D et al.

Genes, 2025

41300767 (PubMed )
Supplement: genes-16-01315-s001.zip › genes-3861651-supplementary.pdf

Clinical and genetic features of UNC13D deficiency with hypogammaglobulinemia.

Xiong L et al.

Frontiers in Immunology, 2025

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