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Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
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- Physiological Reports, 2024, v. 12, n. 8, p. 1, doi. 10.14814/phy2.16015
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- Article
Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies.
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- Journal of Personalized Medicine, 2022, v. 12, n. 12, p. 2040, doi. 10.3390/jpm12122040
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- Article
Replication of Known and Identification of Novel Associations in Biobank-Scale Datasets: A Survey Using UK Biobank and FinnGen.
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- Genes, 2024, v. 15, n. 7, p. 931, doi. 10.3390/genes15070931
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- Article
Aggregation of Genome-Wide Association Data from FinnGen and UK Biobank Replicates Multiple Risk Loci for Pregnancy Complications.
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- Genes, 2022, v. 13, n. 12, p. 2255, doi. 10.3390/genes13122255
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- Article
Gene Amplification as a Mechanism of Yeast Adaptation to Nonsense Mutations in Release Factor Genes.
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- Genes, 2021, v. 12, n. 12, p. 2019, doi. 10.3390/genes12122019
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- Article
Chromosome-level genome assembly and structural variant analysis of two laboratory yeast strains from the Peterhof Genetic Collection lineage.
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- G3: Genes | Genomes | Genetics, 2021, v. 11, n. 4, p. 1, doi. 10.1093/g3journal/jkab029
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- Article
A Data-Driven Review of the Genetic Factors of Pregnancy Complications.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 9, p. 3384, doi. 10.3390/ijms21093384
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- Article
Gene Expression Analysis of Yeast Strains with a Nonsense Mutation in the eRF3-Coding Gene Highlights Possible Mechanisms of Adaptation.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6308, doi. 10.3390/ijms25126308
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- Article
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17572, doi. 10.3390/ijms242417572
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- Article