New insights into genetic variant spectrum and genotype–phenotype
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Human variation in population-wide gene expression data predicts gene perturbation phenotype - ScienceDirect
Genotype-first approach - Wikipedia
Epigenomes of Human Hearts Reveal New Genetic Variants Relevant for Cardiac Disease and Phenotype
Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders
Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
Frontiers Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance
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