Associated Papers
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh S et al.
Journal of Medical Genetics, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Population genetic analysis of the uncoupling proteins supports a role for UCP3 in human cold resistance.
Hancock AM et al.
Molecular Biology and Evolution, 2011
Endogenous mutations in human uncoupling protein 3 alter its functional properties.
Brown AM et al.
Febs Letters, 1999
Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis.
Chung WK et al.
Diabetes, 1999
Genetics of uncoupling proteins in humans.
Warden C
International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 1999
The long isoform uncoupling protein-3 (UCP3L) in human energy homeostasis.
Chung WK et al.
International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 1999
Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes.
Argyropoulos G et al.
The Journal of Clinical Investigation, 1998
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