Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.M1I
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TMEM127

NM_017849.4:p.M1I

Associated Papers

Overall cancer risk in people with deleterious germline DDX41 variants.

Korotev SC et al.

Haematologica, 2025

39945023 (PubMed )
Supplement: 2024_286887_KOROTEV_SUPPL.pdf

Genetic spectrum in a Canadian cohort of apparently sporadic pheochromocytomas and paragangliomas: New data on multigene panel retesting over time.

Parisien-La Salle S et al.

Clinical Endocrinology, 2022

Genotype-Phenotype Features of Germline Variants of the TMEM127 Pheochromocytoma Susceptibility Gene: A 10-Year Update.

Armaiz-Pena G et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Homozygous TMEM127 mutations in 2 patients with bilateral pheochromocytomas.

Eijkelenkamp K et al.

Clinical Genetics, 2018

Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.

Neumann HP et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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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."