HuGE Literature Finder
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High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. Clinical genetics 2020 5 98 (2): 166-171. Gouronc Aurélie, Zilliox Vincent, Jacquemont Marie-Line, Darcel Françoise, Leuvrey Anne-Sophie, Nourisson Elsa, Antin Manuela, Alessandri Jean-Luc, Doray Bérénice, Gueguen Paul, Payet Frédérique, Randrianaivo Hanitra, Stoetzel Corinne, Scheidecker Sophie, Flodrops Hugues, Dollfus Hélène, Muller Je |
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics 2016 Aug 99 (2): 318-36. Lindstrand Anna, Frangakis Stephan, Carvalho Claudia M B, Richardson Ellen B, McFadden Kelsey A, Willer Jason R, Pehlivan Davut, Liu Pengfei, Pediaditakis Igor L, Sabo Aniko, Lewis Richard Alan, Banin Eyal, Lupski James R, Davis Erica E, Katsanis Nichol |
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- Page last updated:Mar 31, 2023
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