TIPHANIE VOGEL to Mutation
This is a "connection" page, showing publications TIPHANIE VOGEL has written about Mutation.
Connection Strength
0.446
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Novel SAMD9 Variant Causing MIRAGE Syndrome Treated with Subcutaneous Immunoglobulin. J Clin Immunol. 2024 09 30; 45(1):19.
Score: 0.082
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Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 06 01; 217(6).
Score: 0.061
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 06 07; 102(6):1126-1142.
Score: 0.053
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NLRC4 inflammasomopathies. Curr Opin Allergy Clin Immunol. 2017 Dec; 17(6):398-404.
Score: 0.051
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Somatic mutations and clonal hematopoiesis in congenital neutropenia. Blood. 2018 01 25; 131(4):408-416.
Score: 0.051
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The Ying and Yang of STAT3 in Human Disease. J Clin Immunol. 2015 Oct; 35(7):615-23.
Score: 0.044
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Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly. Am J Hum Genet. 2026 Jun 04; 113(6):1214-1232.
Score: 0.023
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The common HAQ STING allele prevents clinical penetrance of COPA syndrome. J Exp Med. 2025 Apr 07; 222(4).
Score: 0.021
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STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+?T?cell dysregulation and accumulation. Immunity. 2022 12 13; 55(12):2386-2404.e8.
Score: 0.018
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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. J Allergy Clin Immunol. 2023 04; 151(4):1081-1095.
Score: 0.018
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms. Neuron. 2020 05 20; 106(4):589-606.e6.
Score: 0.015
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Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations. Blood. 2015 Jan 22; 125(4):591-9.
Score: 0.010