Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.Y2704delFs
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FLNC

NM_001458.5:p.Y2704delFs

Associated Papers

Unveiling FLNC variants: iPSC-derived myogenic cells as a model to study disease mechanisms.

Daya NM et al.

Skeletal Muscle, 2026

Generation of two hiPSCs lines of two patients carrying truncating mutations in the dimerization domain of filamin C.

Daya NM et al.

Stem Cell Research, 2024

Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.

Sellung D et al.

Cells, 2023

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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."