Varaico: Literature-Extracted Genetic Variants

Gene:FHL2
Variant:p.R113C
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FHL2

NM_001318895.3:p.R113C

Associated Papers

Nesprin-2 is a novel scaffold protein for telethonin and FHL-2 in the cardiomyocyte sarcomere.

Li C et al.

The Journal of Biological Chemistry, 2024

The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.

Fernandez-Falgueras A et al.

Plos One, 2024

38691546 (PubMed )
Supplement: pone.0297914.s001.xlsx › Hoja1

Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.

Zhou TC et al.

Scientific Reports, 2020

33004823 (PubMed )
Supplement: 41598_2020_73190_MOESM1_ESM.pdf
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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."