Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.M239V
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TTN

NM_001267550.2:p.M239V

Associated Papers

Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.

Fernández SG et al.

Molecular Neurodegeneration, 2025

40281586 (PubMed )
Supplement: 13024_2025_832_MOESM1_ESM.docx

Flow-induced structural transition in the beta-switch region of glycoprotein Ib.

Chen Z et al.

Biophysical Journal, 2008

Novel gain-of-function mutations of platelet glycoprotein IBalpha by valine mutagenesis in the Cys209-Cys248 disulfide loop. Functional analysis under statis and dynamic conditions.

Dong J et al.

The Journal of Biological Chemistry, 2000

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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."