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The breakthrough in high throughput human genetics has enabled easy identification of the genetic cause for many "extreme diseases phenotypes".
Specific histological components of the NAFLD disease phenotype were next assessed individually.
Pharmacological testing in EHT unmasked a disease phenotype in HET.
Jing, H. et al. Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.
Gliosis is a typical hallmark in chronic temporal lobe epilepsy and may contribute to the disease phenotype.
Rutherford, N. J. et al. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.
Variants of Uncertain Significance (VUS) are genetic variants whose association with a disease phenotype has not been established.
Many diseases, including cancer, show aberrant methylation patterns that contribute to the disease phenotype.
A disease phenotype generally reflects various pathobiological processes that interact in a complex network.
A narrowly defined disease phenotype can offer advantages over broad definitions.
This review will focus on the relationships between these functions and the EDMD disease phenotype.
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