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Additional file 3 of Lethal variants in humans: lessons learned from a large molecular autopsy cohort

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Figshare2021-10-13 更新2026-04-28 收录
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Additional file 3: Supplementary Tables S2-S5. Table S2: Level of very long chain fatty acids in patient 18DG0989. Values with asterisk are elevated. Table S3: Breakdown of genes with no OMIM phenotype. No OMIM phenotype*: Case phenotype is not listed in OMIM. Table S4: Breakdown of the diagnostic yield by phenotypic outcome and consanguinity status. Genes in bold are mutated in more than one family. Table S5: Founder variants in this study and their frequency in Saudi and other populations. CGM: local ES database.
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2021-10-13
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