Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.S1296L
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FLNC

NM_001458.5:p.S1296L

Associated Papers

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S7._Non-pass_IEVs

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains.

Janssens J et al.

Acta Neuropathologica Communications, 2015

26555887 (PubMed )
Supplement: 40478_2015_246_MOESM1_ESM.doc
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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."