Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L299_S303delFs
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TP53

NM_000546.6:p.L299_S303delFs

Associated Papers

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.

Evans DG et al.

Journal of Medical Genetics, 2022

33758026 (PubMed )
Supplement: jmedgenet-2020-107347supp001.pdf

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

Differentiated vulvar intraepithelial neoplasia contains Tp53 mutations and is genetically linked to vulvar squamous cell carcinoma.

Pinto AP et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2010

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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."