Varaico: Literature-Extracted Genetic Variants

Gene:MAX
Variant:p.A21_A22Splc
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MAX

NM_002382.5:p.A21_A22Splc

Associated Papers

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

Eren A et al.

Jcem Case Reports, 2025

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

A Novel, Likely Pathogenic MAX Germline Variant in a Patient With Unilateral Pheochromocytoma.

Lam-Chung CE et al.

Journal of the Endocrine Society, 2021

MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation.

Schaefer IM et al.

Nature Communications, 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."