Varaico: Literature-Extracted Genetic Variants

Gene:MAX
Variant:p.R25W
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MAX

NM_002382.5:p.R25W

Associated Papers

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM10_ESM.xlsx › S10

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

Functional and in silico assessment of MAX variants of unknown significance.

Comino-Méndez I et al.

Journal of Molecular Medicine (berlin, Germany), 2015

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Burnichon N et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

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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."