PRP: pathogenic risk prediction for rare nonsynonymous single nucleotide variants.
- Published in:
- Human Genetics, 2025, v. 144, n. 6, p. 679, doi. 10.1007/s00439-025-02751-z
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- Publication type:
- Article
Works matching IS 03406717 AND DT 2025 AND VI 144 AND IP 6
Results: 7
1
2
Exploring mutation carriers' preferences regarding onset and progression of disease predictions for adult-onset genetic neurodegenerative diseases: a qualitative interview study.
- Published in:
- Human Genetics, 2025, v. 144, n. 6, p. 665, doi. 10.1007/s00439-025-02750-0
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- Publication type:
- Article
3
Genome-wide association study of Fuchs' endothelial corneal dystrophy in the German population.
- Published in:
- Human Genetics, 2025, v. 144, n. 6, p. 653, doi. 10.1007/s00439-025-02749-7
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- Publication type:
- Article
4
Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort.
- Published in:
- Human Genetics, 2025, v. 144, n. 6, p. 633, doi. 10.1007/s00439-025-02748-8
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- Publication type:
- Article
5
A genomic tale of inbreeding in western Mediterranean human populations.
- Published in:
- Human Genetics, 2025, v. 144, n. 6, p. 615, doi. 10.1007/s00439-025-02747-9
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- Publication type:
- Article
6
Secondary findings in hereditary cancer genes after germline genetic testing – systematic review of literature.
- Published in:
- Human Genetics, 2025, v. 144, n. 6, p. 595, doi. 10.1007/s00439-025-02746-w
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- Publication type:
- Article
7
Harnessing genotype and phenotype data for population-scale variant classification using large language models and bayesian inference.
- Published in:
- Human Genetics, 2025, v. 144, n. 6, p. 605, doi. 10.1007/s00439-025-02743-z
- By:
- Publication type:
- Article