Rare Disease Day 2018

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From HuGE Literature Finder Database

This database contains published literature on genetic associations and other human genome epidemiology

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• GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.  
  Parkinsonism & related disorders 2017 Sep .
  Dobri?i? Valerija, Tomi? Aleksandra, Brankovi? Vesna, Kresojevi? Nikola, Jankovi? Milena, Westenberger Ana, Raši? Vedrana Mili?, Klein Christine, Novakovi? Ivana, Svetel Marina, Kosti? Vladimir
• What can the CF registry tell us about rare CFTR-mutations? A Belgian study.  
  Orphanet journal of rare diseases 2017 Aug 12 (1): 142.
  De Wachter E, Thomas M, Wanyama S S, Seneca S, Malfroot
• Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort.  
  Orphanet journal of rare diseases 2016 Dec 11 (1): 165.
  Pacheco Yves, Calender Alain, Israël-Biet Dominique, Roy Pascal, Lebecque Serge, Cottin Vincent, Bouvry Diane, Nunes Hilario, Sève Pascal, Pérard Laurent, Devouassoux Gilles, Freymond Nathalie, Khouatra Chahira, Wallaert Benoît, Lamy Raphaelle, Elsensohn Mad-Hélénie, Bardel Claire, Valeyre Dominique,
• Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.  
  Nature reviews. Genetics 2016 Sep 17 (10): 584.
  Bahcall Orli
• Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.  
  Pharmacogenomics 2016 Jun .
  Ne?oldová Magdaléna, Stránecký Viktor, Hoda?ová Kate?ina, Hartmannová Hana, Piherová Lenka, P?istoupilová Anna, Mrázová Lenka, Vrablík Michal, Adámková V?ra, Hubá?ek Jaroslav A, Jirsa Milan, Kmoch Stanisl

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