Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.T1194delFs
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FLNA

NM_001110556.2:p.T1194delFs

Associated Papers

Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.

Amezquita J et al.

Biorxiv : the Preprint Server for Biology, 2023

38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants

Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.

Yang L et al.

Bmc Pediatrics, 2023

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

Combined cardiological and neurological abnormalities due to filamin A gene mutation.

de Wit MC et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2011

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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."