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BioMed Central, Human Genomics, 1(11)

DOI: 10.1186/s40246-017-0111-9

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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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