Varaico: Literature-Extracted Genetic Variants

Gene:FLNA
Variant:p.D125Splc
Back to variants list

FLNA

NM_001110556.2:p.D125Splc

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

Sinus of Valsalva Aneurysm in Females.

Wang Y et al.

International Heart Journal, 2022

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

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

Parrini E et al.

Brain : a Journal of Neurology, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."