Varaico: Literature-Extracted Genetic Variants

Gene:NFKBIA
Variant:p.R245_V246delFs
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NFKBIA

NM_020529.3:p.R245_V246delFs

Associated Papers

Morphological, immunohistochemical and molecular analysis of follicular dendritic cell sarcomas: L1CAM as a new diagnostic marker.

Schelbert S et al.

Histopathology, 2025

40289262 (PubMed )
Supplement: HIS-87-258-s001.zip › his15458-sup-0003-Supplementary_Table_2-4_revised_changes_highlighted.xlsx › Table_S2

Cell-Free DNA for Genomic Analysis in Primary Mediastinal Large B-Cell Lymphoma.

Rivas-Delgado A et al.

Diagnostics (basel, Switzerland), 2022

35885481 (PubMed )
Supplement: diagnostics-12-01575-s001.zip › Supp_Files › diagnostics-1749759_Supp_Tables_R1.xlsx › Table_S2

Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.

Gold NB et al.

Hgg Advances, 2022

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
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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."