Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome
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| Description | scientific article published on 17 April 2014 |
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author: Anna Lindstrand Richard A Gibbs Davut Pehlivan James R. Lupski Nicholas Katsanis Donna Muzny |
| Publication date | April 17, 2014 |
| Language | English |
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