Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.E541*
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FLNA

NM_001110556.2:p.E541*

Associated Papers

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

FLNA variants associated with disorders of platelet number or function.

Vassallo P et al.

Platelets, 2020

A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.

Ieda D et al.

Brain & Development, 2018

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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."