A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.
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| Description | scientific article published on 21 December 2015 |
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author: Abdul Nasir Kwanghyuk Lee Suzanne M. Leal University of Washington Center for Mendelian Genomics |
| Publication date | December 21, 2015 |
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