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A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation

✍ Scribed by Drury, Suzanne; Boustred, Christopher; Tekman, Mehmet; Stanescu, Horia; Kleta, Robert; Lench, Nicholas; Chitty, Lyn S.; Scott, Richard H.

Book ID: 121671551
Publisher: John Wiley and Sons
Year: 2014
Tongue: English
Weight: 137 KB
Volume: 164
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.36506

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