檢索結果 - Timothy Hefferon

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    A variable dinucleotide repeat in the <i>CFTR</i> gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing

    A variable dinucleotide repeat in the <i>CFTR</i> gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing 由 Timothy Hefferon, Joshua D. Groman, Catherine E. Yurk, Garry R. Cutting

    出版 2004
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  2. 2
    Tracking genetic variants in the biomedical literature using LitVar 2.0

    Tracking genetic variants in the biomedical literature using LitVar 2.0 由 Alexis Allot, Chih-Hsuan Wei, Lon Phan, Timothy Hefferon, Melissa Landrum, Heidi L. Rehm, Zhiyong Lu

    出版 2023
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    dbVar and DGVa: public archives for genomic structural variation

    dbVar and DGVa: public archives for genomic structural variation 由 Ilkka Lappalainen, John Lopez, Lisa Skipper, Timothy Hefferon, Dylan Spalding, John Garner, Chao Chen, Michael E. Maguire, Matt Corbett, George Zhou, Justin Paschall, Victor Ananiev, Paul Flicek, Deanna M. Church

    出版 2012
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    Database resources of the National Center for Biotechnology Information

    Database resources of the National Center for Biotechnology Information 由 Eric W Sayers, Richa Agarwala, Evan Bolton, J. Rodney Brister, Kathi Canese, Karen Clark, Ryan Connor, Nicolas Fiorini, Kathryn Funk, Timothy Hefferon, J. Bradley Holmes, Sunghwan Kim, Avi Kimchi, Paul Kitts, Stacy Lathrop, Zhiyong Lu, Thomas Madden, Aron Marchler‐Bauer, Lon Phan, Valérie Schneider, Conrad L. Schoch, Kim D. Pruitt, James Ostell

    出版 2018
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    Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

    Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign 由 Joshua D. Groman, Timothy Hefferon, Teresa Casals, L. Bassas, Xavier Estivill, Marie des Georges, Caroline Guittard, Monika Koudová, M. Daniele Fallin, Krisztína Németh, György Fekete, L Kádasi, K.J. Friedman, Martin Schwarz, Cristina Bombieri, Pier Franco Pignatti, Emmanuel Kanavakis, Maria Tzetis, Marianne Schwartz, Giuseppe Novelli, Maria Rosaria D’Apice, Agnieszka Sobczyńska‐Tomaszewska, Jerzy Bal, Manfred Stuhrmann, Milan Maçek, Mireille Claustres, Garry R. Cutting

    出版 2004
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