Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L826fs
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UNC13D

NM_199242.3:p.L826fs

Associated Papers

Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.

Elsink K et al.

Frontiers in Immunology, 2021

34992599 (PubMed )
Supplement: Table_3.xlsx › Blad1

FHLdb: A Comprehensive Database on the Molecular Basis of Familial Hemophagocytic Lymphohistiocytosis.

Viñas-Giménez L et al.

Frontiers in Immunology, 2020

32076423 (PubMed )
Supplement: Table_1.XLSX › Supplementary_Table_1
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