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PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants

Kathleen Baysac, Guangping Sun, Hiroto Nakano, Elizabeth Schmitz, Anthony Cruz, Charles G. Fisher, Alexis C. Bailey, Jordan K. Abbott, Juan Carlos Aldave Becerra, Eric J. Allenspach,

Journal of Allergy and Clinical Immunology · 2023 · 54 citations · 36 references

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36

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

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The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

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CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch, Daniela Witten, Gregory M. Cooper et al. · Nucleic Acids Research · 2018 · 3.9K citations · Full text

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Resistance Mechanisms for the Bruton's Tyrosine Kinase Inhibitor Ibrutinib

Jennifer A. Woyach, Richard R. Furman, Ta-Ming Liu et al. · New England Journal of Medicine · 2014 · 1.3K citations · Full text

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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Rebecca Sims, Sven J. van der Lee, Adam C. Naj et al. · Nature Genetics · 2017 · 1.1K citations · Full text

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