Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.E238Q
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TTN

NM_001267550.2:p.E238Q

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 Titin Gene Mutation Causing Autosomal Dominant Limb-Girdle Muscular Dystrophy.

Peddareddygari LR et al.

Cureus, 2022

A novel mutation in limb girdle muscular dystrophy.

Correa M et al.

Puerto Rico Health Sciences Journal, 2007

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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