Publication: Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation
Date
Date
Date
2017
Journal Article
Published version
Citations
Asadollahi, R., Zweier, M., Gogoll, L., Schiffmann, R., Sticht, H., Steindl, K., & Rauch, A. (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, 451–464. https://doi.org/10.1016/j.ejmg.2017.06.004
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1 since deposited on 2017-11-10
Acq. date: 2025-11-12
Views
88 since deposited on 2017-11-10
Acq. date: 2025-11-12
Additional indexing
Creators (Authors)
- Asadollahi, Reza
- Gogoll, Laura
- Schiffmann, Raphael
- Sticht, Heinrich
- Rauch, Anita
Volume
Volume
Volume
60
Number
Number
Number
9
Page range/Item number
Page range/Item number
Page range/Item number
451
Page end
Page end
Page end
464
Item Type
Item Type
Item Type
Journal Article
In collections
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Language
Language
Language
English
Publication date
Publication date
Publication date
2017-09
Date available
Date available
Date available
2017-11-10
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
1769-7212
OA Status
OA Status
OA Status
Closed
Publisher DOI
Metrics
Downloads
1 since deposited on 2017-11-10
Acq. date: 2025-11-12
Views
88 since deposited on 2017-11-10
Acq. date: 2025-11-12
Citations
Asadollahi, R., Zweier, M., Gogoll, L., Schiffmann, R., Sticht, H., Steindl, K., & Rauch, A. (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, 451–464. https://doi.org/10.1016/j.ejmg.2017.06.004
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Asadollahi_et_al._Genotype-Phenotype_evaluation_of_MED_13L.pdfview file PDF|1Download1.5 MB
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Asadollahi_et_al._Genotype-Phenotype_evaluation_of_MED_13L.pdfview file PDF|1Download1.5 MB
Content:Published Version
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Files available to download:1
Asadollahi_et_al._Genotype-Phenotype_evaluation_of_MED_13L.pdfview file PDF|1Download1.5 MB
Content:Published Version
Asadollahi_et_al._Genotype-Phenotype_evaluation_of_MED_13L.pdfview file PDF|1Download1.5 MB
Content:Published Version
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