Associated Papers
TITINdb2-expanding annotation and structural information for protein variants in the giant sarcomeric protein titin.
Weston T et al.
Bioinformatics Advances, 2025
40270927 (PubMed )
Supplement: vbaf062_supplementary_data.docx
Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.
Wang G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genetics of Muscle Stiffness, Muscle Elasticity and Explosive Strength.
Maciejewska-Skrendo A et al.
Journal of Human Kinetics, 2020
A novel mutation in TTN gene in a Saudi patient with bilateral facial weakness and scapular winging.
Algahtani H et al.
Intractable & Rare Diseases Research, 2019
Thick Filament Protein Network, Functions, and Disease Association.
Wang L et al.
Comprehensive Physiology, 2018
Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.
Zheng W et al.
Molecular Neurobiology, 2016
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M et al.
Journal of Neuromuscular Diseases, 2016
Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin.
Weston TGR et al.
Wires Mechanisms of Disease, 0
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