Varaico: Literature-Extracted Genetic Variants

Gene:MAX
Variant:p.A67D
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MAX

NM_002382.5:p.A67D

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

Mutations to transcription factor MAX allosterically increase DNA selectivity by altering folding and binding pathways.

Hastings R et al.

Nature Communications, 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

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

Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours.

Flynn A et al.

The Journal of Pathology, 2017

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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."