Varaico: Literature-Extracted Genetic Variants

Gene:MAX
Variant:p.V99Splc
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MAX

NM_002382.5:p.V99Splc

Associated Papers

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

A Novel MAX Gene Mutation Variant in a Patient With Multiple and "Composite" Neuroendocrine-Neuroblastic Tumors.

Pozza C et al.

Frontiers in Endocrinology, 2020

Case Report of a Prolactinoma in a Patient With a Novel MAX Mutation and Bilateral Pheochromocytomas.

Roszko KL et al.

Journal of the Endocrine Society, 2017

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