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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 18, 2025. (Total: 235441Documents)
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Query Trace: Bardet-Biedl Syndrome and ALMS1[original query]
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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