Varaico: Literature-Extracted Genetic Variants

Gene:SPEN
Variant:p.A970V
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SPEN

NM_015001.3:p.A970V

Associated Papers

Whole exome sequencing identifies novel somatic variants in Xinjiang Kazak esophageal squamous cell carcinoma.

Wang MB et al.

Pathology, Research and Practice, 2025

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11

Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.

Miyazawa K et al.

Nature Genetics, 2023

Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.

Zhao M et al.

Frontiers in Genetics, 2023

37152994 (PubMed )
Supplement: Table3.XLSX › Raw_data

Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Park J et al.

Cell Reports. Medicine, 2022

Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.

Coco S et al.

Cancers, 2019

30925779 (PubMed )
Supplement: cancers-11-00441-s001.zip › cancers-452240-Supplementary › Table_S3.xlsx › Table_S3

Tumorigenicity-associated characteristics of human iPS cell lines.

Yasuda S et al.

Plos One, 2018

30286143 (PubMed )
Supplement: pone.0205022.s006.xlsx › Sheet1

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Nasuno T et al.

Cancer Science, 2014

24219164 (PubMed )
Supplement: cas0105-0202-SD2.xlsx › TE1
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