Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L32_S33Splc
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TP53

NM_000546.6:p.L32_S33Splc

Associated Papers

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › BVs

In search of TP53 mutational hot spots for Li-Fraumeni syndrome in Asian populations.

Lo Piccolo L et al.

Tropical Medicine & International Health : Tm & Ih, 2021

Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Kim B et al.

Plos One, 2019

30840646 (PubMed )
Supplement: pone.0212228.s002.pdf

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E et al.

Plos One, 2015

26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1

Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

Lee DS et al.

Breast Cancer Research : Bcr, 2012

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