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

Bilateral Pheochromocytoma with Germline MAX Variant without Family History.

Hata S et al.

Clinics and Practice, 2022

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

Schaefer IM et al.

Nature Communications, 2017

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma.

Comino-Méndez I et al.

Nature Genetics, 2011

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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."