Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.G103delFs
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TMEM127

NM_017849.4:p.G103delFs

Associated Papers

Functional Characterization of TMEM127 Variants Reveals Novel Insights into Its Membrane Topology and Trafficking.

Flores SK et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

Casey RT et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association.

Hernandez KG et al.

Virchows Archiv : an International Journal of Pathology, 2015

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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."