Varaico: Literature-Extracted Genetic Variants

Gene:FHL1
Variant:p.Y224*
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FHL1

NM_001159699.2:p.Y224*

Associated Papers

The FHL1 myopathy spectrum revisited: a literature review and report of two new patients.

Caputo M et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2024

Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.

Balakrishnan ID et al.

Genetics in Medicine Open, 2024

FHL1-related clinical, muscle MRI and genetic features in six Chinese patients with reducing body myopathy.

Hu Z et al.

Journal of Human Genetics, 2019

Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.

Stehlíková K et al.

Clinical Genetics, 2017

Patient-specific protein aggregates in myofibrillar myopathies: laser microdissection and differential proteomics for identification of plaque components.

Feldkirchner S et al.

Proteomics, 2012

Four and a half LIM protein 1C (FHL1C): a binding partner for voltage-gated potassium channel K(v1.5).

Poparic I et al.

Plos One, 2011

Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.

Shathasivam T et al.

Journal of Cellular and Molecular Medicine, 2010

Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.

Gueneau L et al.

American Journal of Human Genetics, 2009

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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."