Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
Author:
Funder
National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Drug Discovery,Genetics,Molecular Biology,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1186/s40246-017-0111-9.pdf
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