Found: 9
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Variant graph craft (VGC): a comprehensive tool for analyzing genetic variation and identifying disease-causing variants.
- Published in:
- BMC Bioinformatics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12859-024-05875-7
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- Publication type:
- Article
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 580, p. 1, doi. 10.1126/scitranslmed.aaw0682
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- Publication type:
- Article
Autism Heterogeneity in a Densely Sampled U.S. Population: Results From the First 1,000 Participants in the RI‐CART Study.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 3, p. 474, doi. 10.1002/aur.2261
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- Article
MMR Deficiency Defines Distinct Molecular Subtype of Breast Cancer with Histone Proteomic Networks.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5327, doi. 10.3390/ijms24065327
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- Publication type:
- Article
VarStack: a web tool for data retrieval to interpret somatic variants in cancer.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2020, v. 2020, p. 1, doi. 10.1093/database/baaa092
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- Publication type:
- Article
LYRUS: a machine learning model for predicting the pathogenicity of missense variants.
- Published in:
- Bioinformatics Advances, 2022, v. 2, n. 1, p. 1, doi. 10.1093/bioadv/vbab045
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- Publication type:
- Article
Exon 19 Deletion in EGFR in a Patient with a High-Grade Glioma: A Case Report.
- Published in:
- Annals of Clinical & Laboratory Science, 2023, v. 53, n. 5, p. 789
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- Publication type:
- Article
Somatic mutations in collagens are associated with a distinct tumor environment and overall survival in gastric cancer.
- Published in:
- 2022
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- Publication type:
- journal article
Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 10, p. 1634, doi. 10.1093/hmg/ddad002
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- Publication type:
- Article