Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.S564Splc
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FLNA

NM_001110556.2:p.S564Splc

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

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 mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.

Cannaerts E et al.

Bmc Medical Genetics, 2018

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.

Parrini E et al.

Brain : a Journal of Neurology, 2006

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

Masurel-Paulet A et al.

European Journal of Medical Genetics, 0

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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."