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Title:           Novel frameshift variants expand the map of the genetic defects in IRF2BP2
Subject:         García-Aznar JM, Maneiro Pampín E, García Ramos M, Acuña Pérez MJ, Paz Gandiaga N, Minguell Domingo L, Calavia O, Soler-Palacin P, Colobran R, Novoa Bolívar EM and Ocejo Vinyals JG (2023) Novel frameshift variants expand the map of the genetic defects in IRF2BP2. Front. Immunol. 14:1279171
Keywords:        IRF2BP2, CVID, colitis, primary immunodeficiency, loss-of-function mutations
Author:          José María García-Aznar
CreationDate:    Mon Oct  9 08:16:18 2023 CEST
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      Title: Novel frameshift variants expand the map of the genetic defects in IRF2BP2
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       Item: 
        Title: 1 Introduction
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       Item: 
        Title: 2 Materials and methods
        Destination: s2
        Children: 
         Item: 
          Title: 2.1 High throughput sequencing
          Destination: s2_1
         Item: 
          Title: 2.2 Sanger sequencing DNA
          Destination: s2_2
         Item: 
          Title: 2.3 CGX-HD array
          Destination: s2_3
         Item: 
          Title: 2.4 RNA isolation, RT-PCR and cDNA synthesis
          Destination: s2_4
         Item: 
          Title: 2.5 RT-PCR assay of IRF2BP2 endogenous expression
          Destination: s2_5
         Item: 
          Title: 2.6 Sanger sequencing of RT-PCR products
          Destination: s2_6
         Item: 
          Title: 2.7 Patient consent for publication
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       Item: 
        Title: 3 Results
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        Children: 
         Item: 
          Title: 3.1 Patient description
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          Title: 3.2 Loss-of-function variants in IRF2BP2
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         Item: 
          Title: 3.3 RT-PCR analysis of endogenous IRFBP2 expression
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         Item: 
          Title: 3.4 Literature review of variants in IRF2BP2
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       Item: 
        Title: 4 Discussion
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       Item: 
        Title: Data availability statement
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       Item: 
        Title: Ethics statement
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       Item: 
        Title: Author contributions
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       Item: 
        Title: Funding
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       Item: 
        Title: Acknowledgments
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       Item: 
        Title: Supplementary material
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       Item: 
        Title: References
        Destination: bmark_2090415954
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    Title: Novel frameshift variants expand the map of the genetic defects in IRF2BP2
    Author: José María García-Aznar
    Subject: García-Aznar JM, Maneiro Pampín E, García Ramos M, Acuña Pérez MJ, Paz Gandiaga N, Minguell Domingo L, Calavia O, Soler-Palacin P, Colobran R, Novoa Bolívar EM and Ocejo Vinyals JG (2023) Novel frameshift variants expand the map of the genetic defects in IRF2BP2. Front. Immunol. 14:1279171
    Keywords: IRF2BP2, CVID, colitis, primary immunodeficiency, loss-of-function mutations
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  Checksum: 96d6ae5f
   Type: CRC32
  Checksum: d6d8708e0a615eb658310531ac18ce3e
   Type: MD5
  Checksum: b8ad9791d9882b650b1c502e472e67799ec33e7e
   Type: SHA-1
  Checksum: ca17d8a73ccc1995e558f12d0e809792188be69054119c7b48a422a36340821c
   Type: SHA-256