supplemental table 2_ Classification of MEN1 variants according to the ACMG-AMP guidelines

Figshare2023-10-11 更新90

Clinicopathological characteristics of patients with identified germline alterations.

NIAID Data Ecosystem50

A large germline alteration affecting MAX and FUT8, causing familial bilateral malignant pheochromocytoma and renal oncocytoma

家族性嗜铬细胞瘤

MAX/FUT8基因胚系突变

Familial pheochromocytoma (PCC) has been associated with germline mutations in 14 genes. Here we investigated three siblings, who presented with (metastatic) bilateral pheochromocytomas, renal oncocyt

NIAID Data Ecosystem20

A large germline alteration affecting MAX and FUT8, causing familial bilateral malignant pheochromocytoma and renal oncocytoma

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