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Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies

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Description scientific article published on 22 November 2017
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author: Rocio Ortiz-Lopez  Augusto Rojas-Martinez 

Publication date November 22, 2017
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