Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.R730Q
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ERCC2

NM_000400.4:p.R730Q

Associated Papers

Genomic instability and CCNE1 amplification as emerging biomarkers for stratifying high-grade serous ovarian cancer.

Conca E et al.

Frontiers in Oncology, 2025

40842600 (PubMed )
Supplement: Table2.xlsx › Foglio1

Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.

Wang C et al.

Bmc Genomics, 2023

37501076 (PubMed )
Supplement: 12864_2023_9505_MOESM1_ESM.xlsx › Summary

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

Functional deficiency of DNA repair gene EXO5 results in androgen-induced genomic instability and prostate tumorigenesis.

Ali S et al.

Oncogene, 2020

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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."