Varaico: Literature-Extracted Genetic Variants

Gene:MAX
Variant:p.R100P
Back to variants list

MAX

NM_002382.5:p.R100P

Associated Papers

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

Case Report: Pheochromocytoma and Synchronous Neuroblastoma in a Family With Hereditary Pheochromocytoma Associated With a MAX Deleterious Variant.

Duarte DB 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."