Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
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| Description | scientific article published on January 2017 |
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author: Matthew T Wheeler Undiagnosed Diseases Network Jennefer N Kohler Christine M. Eng Diane B Zastrow Euan A. Ashley |
| Publication date | January 1, 2017 |
| Language | English |
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| Missing/wrong data? | Edit Wikidata item |