Varaico: Literature-Extracted Genetic Variants

Gene:TJP1
Variant:p.G1212D
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TJP1

NM_001330239.4:p.G1212D

Associated Papers

Estradiol alleviates disease phenotypes caused by m.3635G > A mutation by activating mitochondrial biogenesis and PINK1-Parkin mediated mitophagy in iPSC-derived retinal pigment epithelium cells.

Hu C et al.

Cellular Signalling, 2025

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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."