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Data_Sheet_1_Influence of Dominance and Drift on Lethal Mutations in Human Populations.PDF
We consider disease-causing mutations that are lethal when homozygous. Lethality involves the very strongest form of negative selection, with the selection coefficient against the disease-carrying hom
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Additional file 6: of Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations
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Infant models used for PKU analysis
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Additional file 1 of Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH
Table S1: List of primers that were used for amplicon sequencing. (XLSX 19Â kb)
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