Varaico: Literature-Extracted Genetic Variants

Gene:MAX
Variant:p.E8*
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MAX

NM_002382.5:p.E8*

Associated Papers

Multiple Endocrine Neoplasia Type 5 due to Germline MAX Mutations: A Systematic Review of Tumor Spectrum and Clinical Features.

Charoenngam N et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2025

Early-Onset Sarcoma With Germline MAX Variant: Expanding the Spectrum in Hereditary Pheochromocytoma and Paraganglioma.

Eren A et al.

Jcem Case Reports, 2025

Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.

Balinisteanu I et al.

Current Issues in Molecular Biology, 2024

Updates on the genetics of multiple endocrine neoplasia.

Sahakian N et al.

Annales D'endocrinologie, 2024

Genotype and clinical phenotype characteristics of MAX germline mutation-associated pheochromocytoma/paraganglioma syndrome.

Lian B et al.

Frontiers in Endocrinology, 2024

Primary Hyperparathyroidism in a Patient With Bilateral Pheochromocytoma and a Mutation in the Tumor Suppressor MAX.

Charoenngam N et al.

Jcem Case Reports, 2023

Bilateral Pheochromocytoma with Germline MAX Variant without Family History.

Hata S et al.

Clinics and Practice, 2022

35645312 (PubMed )
Supplement: clinpract-12-00035-s001.zip › clinpract-1702561-supplementary.pdf

Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

Seabrook AJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report.

Mamedova E et al.

Frontiers in Endocrinology, 2021

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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."