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Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation


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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Additional indexing

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
Language:English
Date:September 2017
Deposited On:10 Nov 2017 13:05
Last Modified:19 Feb 2018 09:13
Publisher:Elsevier
ISSN:1769-7212
OA Status:Closed
Publisher DOI:https://doi.org/10.1016/j.ejmg.2017.06.004
PubMed ID:28645799

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