Varaico: Literature-Extracted Genetic Variants

Gene:POLQ
Variant:p.L1430*
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POLQ

NM_199420.4:p.L1430*

Associated Papers

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

Al Saati A et al.

International Journal of Molecular Sciences, 2023

37762649 (PubMed )
Supplement: ijms-24-14348-s001.zip › Supplemental_table_S1_VUS_-_ALL_VUS.xlsx › MATADOR_compare_byvariant_p0.05

Clinicogenomic characteristics and synthetic lethal implications of germline homologous recombination-deficient hepatocellular carcinoma.

An J et al.

Hepatology (baltimore, Md.), 2023

Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients.

Gómez-Flores-Ramos L et al.

Cancers, 2022

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.

Edwards JJ et al.

Jacc. Basic to Translational Science, 2020

32368696 (PubMed )
Supplement: mmc3.xlsx › Cases

The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.

Pinese M et al.

Nature Communications, 2020

31974348 (PubMed )
Supplement: 41467_2019_14079_MOESM4_ESM.xlsx › Somatic

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA et al.

Nature Genetics, 2017

28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2
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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."