Varaico: Literature-Extracted Genetic Variants

Gene:FLII
Variant:p.R1243H
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FLII

NM_002018.4:p.R1243H

Associated Papers

Recessive TMOD1 mutation causes childhood cardiomyopathy.

Vasilescu C et al.

Communications Biology, 2024

38168645 (PubMed )
Supplement: 42003_2023_5670_MOESM1_ESM.pdf

A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy.

Kuwabara Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."