Identification of a novel ALMS1 pathogenic variant in a family with Cone-Rod Dystrophy using whole exome sequencing, followed by prenatal diagnosis
| Autor: | Rafati, Maryam, Tara, Seyedeh Zahra, Hoseininasab, Fatemeh, Ghaffari, Saeed Reza |
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| Zdroj: | In Meta Gene September 2018 17:167-171 |
| Databáze: | ScienceDirect |
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