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Published in 2021 at "Nature genetics"
DOI: 10.1038/s41588-020-00774-y
Abstract: Technological and computational advances in genomics and interactomics have made it possible to identify how disease mutations perturb protein-protein interaction (PPI) networks within human cells. Here, we show that disease-associated germline variants are significantly enriched…
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Keywords:
protein;
protein interactions;
protein protein;
comprehensive characterization ... See more keywords
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Published in 2023 at "Molecular and cellular biology"
DOI: 10.1080/10985549.2023.2210023
Abstract: Abstract Eukaryotic DNA-dependent RNA polymerases (Pols I–III) encode two distinct alpha-like heterodimers where one is shared between Pols I and III, and the other is unique to Pol II. Human alpha-like subunit mutations are associated…
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Keywords:
polymerase;
alpha like;
disease mutations;
yeast ... See more keywords
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Published in 2017 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1006915
Abstract: Do the frequencies of disease mutations in human populations reflect a simple balance between mutation and purifying selection? What other factors shape the prevalence of disease mutations? To begin to answer these questions, we focused…
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Keywords:
genetics;
disease;
selection;
recessive lethal ... See more keywords