Varaico: Literature-Extracted Genetic Variants

Gene:MAX
Variant:p.V9L
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MAX

NM_002382.5:p.V9L

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

MAX Mutations in Endometrial Cancer: Clinicopathologic Associations and Recurrent MAX p.His28Arg Functional Characterization.

Walker CJ et al.

Journal of the National Cancer Institute, 2018

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."