Asadollahi, Reza; Zweier, Markus; Gogoll, Laura; Schiffmann, Raphael; Sticht, Heinrich; Steindl, Katharina; Rauch, Anita (2017). Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. European Journal of Medical Genetics, 60(9):451-464.
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| Item Type: | Journal Article, refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > Institute of Medical Genetics |
| Dewey Decimal Classification: | 570 Life sciences; biology
610 Medicine & health |
| Scopus Subject Areas: | Life Sciences > Genetics
Health Sciences > Genetics (clinical) |
| Language: | English |
| Date: | September 2017 |
| Deposited On: | 10 Nov 2017 13:05 |
| Last Modified: | 23 Nov 2023 08:00 |
| Publisher: | Elsevier |
| ISSN: | 1769-7212 |
| OA Status: | Closed |
| Publisher DOI: | https://doi.org/10.1016/j.ejmg.2017.06.004 |
| PubMed ID: | 28645799 |
Asadollahi, Reza