Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.T152I
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VHL

NM_000551.4:p.T152I

Associated Papers

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Fields FR et al.

Plos One, 2020

33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted

Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Kovaleva V et al.

Molecular Cancer, 2016

27756406 (PubMed )
Supplement: 12943_2016_549_MOESM2_ESM.xlsx › Kovaleva_SuppTableS4_BMC_MolCan

Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients.

Piccini V et al.

Endocrine-related Cancer, 2012

Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations.

Ercolino T et al.

Clinical Endocrinology, 2008

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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."