Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.C31712W
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TTN

NM_001267550.2:p.C31712W

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

Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.

Chen PS et al.

Journal of Neuromuscular Diseases, 2023

A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure.

Yeo Y et al.

Annals of Laboratory Medicine, 2021

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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