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Author

L. Skvortsova

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2 papers indexed here

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Open access Oct 2026

A PATHOGENIC TP53 GENE C.154C>T (P.GLN52TER) NONSENSE VARIANT IN A WOMAN WITH EARLY-ONSET BREAST CANCER: A CASE REPORT

Relevance: Pathogenic constitutional variants of Tumor Protein 53 (TP53) underlie Li-Fraumeni syndrome and confer susceptibility to several malignancies that may arise at unusually young ages. Breast cancer diagnosed before 31 years is included in the modified Chompret criteria for TP53 testing, irrespective of family...

L. Skvortsova, D. Shaiken, K. Zhumagozhayev et al. · 0 citations
Open access Mar 2026

A pilot genome-wide association study of ischemic heart disease with co-occurring arterial hypertension in a Kazakh cohort

Genome-wide association studies (GWAS) of ischemic heart disease (IHD) remain underrepresented in Central Asian populations. We conducted a pilot GWAS of IHD with co-occurring arterial hypertension in a Kazakh cohort to identify candidate loci for future replication. A case-control GWAS was performed in 451 individuals...

L. Skvortsova, K. Yergali, A. Zhaxylykova et al. · 0 citations

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