Rare diseases

https://phgkb.cdc.gov/GAPPKB/phgHome.do

From HuGE Literature Finder Database

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

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• 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
• Eosinophilic gastroenteritis in a patient with Bruton's tyrosine kinase deficiency.  
  Pediatrics international : official journal of the Japan Pediatric Society 2016 Feb .
  Yamazaki Susumu, Ohtsuka Yoshikazu, Yokokura Tomoaki, Yokota Rena, Honjo Asuka, Inage Eisuke, Baba Yosuke, Mori Mari, Suzuki Ryuyo, Iwata Tsutomu, Shimizu Toshia
• Importance of glucokinase -258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus.  
  Intractable & rare diseases research 2016 Feb 5 (1): 25-30.
  Khan Imran Ali, Vattam Kiran Kumar, Jahan Parveen, Hasan Qurratulain, Rao Prag
• Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.  
  Orphanet journal of rare diseases 2016 11 (1): 75.
  Greulich Timm, Nell Christoph, Herr Christian, Vogelmeier Claus, Kotke Viktor, Wiedmann Stefan, Wencker Marion, Bals Robert, Koczulla Andreas Rembe

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