Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

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Description scientific article published on 06 May 2020
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author: Marc S. Williams  Claudia Gonzaga-Jauregui  Saathyaki Rajamani  John Dronzek  Gozde Yesil  Jawid M Fatih  Jeffrey Staples  Alper Gezdirici  Richard A Gibbs  Yavuz Sahin  Davut Pehlivan  Harikiran Nistala  Shek Man Chim  Zeynep Coban Akdemir  James R. Lupski  Aris Economides 

Publication date May 6, 2020
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