Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.
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| Description | scientific article |
| Author/s |
author: Baylor-Hopkins Center for Mendelian Genomics Mehmed M Atik Ozge O Yuregir Serkan Erdin Richard A Gibbs Davut Pehlivan Tomasz Gambin Ender Karaca James R. Lupski Donna Muzny |
| Publication date | August 4, 2015 |
| Language | English |
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| Missing/wrong data? | Edit Wikidata item |