Varaico: Literature-Extracted Genetic Variants

Gene:TLN1
Variant:p.A2013T
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TLN1

NM_006289.4:p.A2013T

Associated Papers

Talin-1 variants associated with spontaneous coronary artery dissection (SCAD) highlight how even subtle changes in multi-functional scaffold proteins can manifest in disease.

Azizi L et al.

Human Molecular Genetics, 2024

Rare Missense Variants in TLN1 Are Associated With Familial and Sporadic Spontaneous Coronary Artery Dissection.

Turley TN et al.

Circulation. Genomic and Precision Medicine, 2019

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.

Parlato M et al.

Embo Molecular Medicine, 2018

29567797 (PubMed )
Supplement: EMMM-10-e8483-s001.pdf
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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."