Varaico: Literature-Extracted Genetic Variants

Gene:FLNB
Variant:p.R1605H
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FLNB

NM_001457.4:p.R1605H

Associated Papers

Case report of a young male, with recurrent pneumothorax, hemoptysis and intrapulmonary cavitary lesions.

Junping S et al.

Medicine, 2023

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Zhao J et al.

Scientific Reports, 2022

36564540 (PubMed )
Supplement: 41598_2022_26850_MOESM3_ESM.xlsx › SelectedGene

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › _3_position

Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.

Jiang H et al.

Journal of Medical Genetics, 2020

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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."