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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

2008/10/29 by Céline Huber, Anee-Lise Delezoide, Fabien Guimiot +42 · 56 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Chromosome #Dwarfism #Gene #Genetic heterogeneity #Genetics #Genetics and Neurodevelopmental Disorders #Locus (genetics) #Mutation #Phenotype #Ubiquitin and proteasome pathways #Viral-associated cancers and disorders

paper · pdf · doi:10.1038/ejhg.2008.200

published in European Journal of Human Genetics 17(3), 395-400 (Springer Science and Business Media LLC)

crossref issued 2008/10/29 · crossref published 2008/10/29 · crossref published-online 2008/10/29 · openalex publication_date 2008/10/29 · crossref created 2009/02/19 · crossref published-print 2009/03/01 · crossref deposited 2023/05/18 · openalex created_date 2025/10/10 · crossref indexed 2026/06/27 · openalex updated_date 2026/07/23

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