Varaico: Literature-Extracted Genetic Variants

Gene:LDB3
Variant:p.T206I
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LDB3

NM_007078.3:p.T206I

Associated Papers

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes.

Radenkovic S et al.

Journal of Translational Medicine, 2026

PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model.

Radenkovic S et al.

Biorxiv : the Preprint Server for Biology, 2025

The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.

Wadmore K et al.

International Journal of Molecular Sciences, 2021

Impaired binding of ZASP/Cypher with phosphoglucomutase 1 is associated with dilated cardiomyopathy.

Arimura T et al.

Cardiovascular Research, 2009

Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations.

Klaavuniemi T et al.

Experimental Cell Research, 2006

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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."