Varaico: Literature-Extracted Genetic Variants

Gene:FLNB
Variant:p.F1411L
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FLNB

NM_001457.4:p.F1411L

Associated Papers

Patient-informed CRISPR screen identifies FLNB as a congenital heart disease and ciliopathy gene.

Arrigo A et al.

Hgg Advances, 2026

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.

Kouri C et al.

Ebiomedicine, 2025

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

Sacral agenesis: a pilot whole exome sequencing and copy number study.

Porsch RM et al.

Bmc Medical Genetics, 2016

28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
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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."