Varaico: Literature-Extracted Genetic Variants

Gene:TMEM127
Variant:p.T191delFs
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TMEM127

NM_017849.4:p.T191delFs

Associated Papers

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

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.

Bausch B et al.

Jama Oncology, 2017

Pheochromocytomatosis associated with a novel TMEM127 mutation.

Yu R et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2017

Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome.

Patócs A et al.

Pathology Oncology Research : Por, 2016

[Hereditary phaeochromocytoma in twins].

Tóth G et al.

Orvosi Hetilap, 2016

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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."