Associated Papers
International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma.
Ben Aim L et al.
Journal of Medical Genetics, 2022
34452955 (PubMed )
Supplement: jmedgenet-2020-107652supp002.xlsx › SDHB_variants
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
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
TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.
Abermil N et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.
Burnichon N et al.
European Journal of Endocrinology, 2011
Select a paper to view details