Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.K331delFs
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FLNA

NM_001110556.2:p.K331delFs

Associated Papers

Frequency and characteristics of emphysema in adults with FLNA variants: a single-center study.

Michalski A et al.

Orphanet Journal of Rare Diseases, 2025

Mendelian causes of early-onset emphysema: a review of the current literature.

Karabatic A et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2025

Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.

Billon C et al.

Orphanet Journal of Rare Diseases, 2021

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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."