Found: 9
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Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 13, p. 7446, doi. 10.3390/ijms23137446
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- Publication type:
- Article
Rare Single Nucleotide Polymorphisms in the Regulatory Regions of the Superoxide Dismutase Genes in Autism Spectrum Disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 1, p. 138, doi. 10.1002/aur.1345
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- Publication type:
- Article
Real-World Data on Detection of Germline and Somatic Pathogenic/Likely Pathogenic Variants in BRCA1/2 and Other Susceptibility Genes in Ovarian Cancer Patients Using Next Generation Sequencing.
- Published in:
- Cancers, 2022, v. 14, n. 6, p. 1434, doi. 10.3390/cancers14061434
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- Publication type:
- Article
New Approach for Detection of Normal Alternative Splicing Events and Aberrant Spliceogenic Transcripts with Long-Range PCR and Deep RNA Sequencing.
- Published in:
- Biology (2079-7737), 2021, v. 10, n. 8, p. 706, doi. 10.3390/biology10080706
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- Article
Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder.
- Published in:
- 2017
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- Publication type:
- Case Study
A Novel Germline MLH1 In-Frame Deletion in a Slovenian Lynch Syndrome Family Associated with Uncommon Isolated PMS2 Loss in Tumor Tissue.
- Published in:
- Genes, 2020, v. 11, n. 3, p. 325, doi. 10.3390/genes11030325
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- Publication type:
- Article
A Population-Based Study of Patients With Small Cell Carcinoma of the Ovary, Hypercalcemic Type, Encompassing a 30-Year Period.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2024, v. 148, n. 3, p. 299, doi. 10.5858/arpa.2022-0297-OA
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- Publication type:
- Article
BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome.
- Published in:
- Breast Cancer (13406868), 2022, v. 29, n. 5, p. 921, doi. 10.1007/s12282-022-01354-0
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- Publication type:
- Article
Correlation of treatment outcome in sanger/RT-qPCR KIT/PDGFRA wild-type metastatic gastrointestinal stromal tumors with next-generation sequencing results: A single-center report.
- Published in:
- Oncology Reports, 2022, v. 48, n. 3, p. N.PAG, doi. 10.3892/or.2022.8382
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- Publication type:
- Article