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.

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
Scopus Subject Areas:	Life Sciences > Genetics Health Sciences > Genetics (clinical)
Language:	English
Date:	September 2017
Deposited On:	10 Nov 2017 13:05
Last Modified:	17 Mar 2025 02:37
Publisher:	Elsevier
ISSN:	1769-7212
OA Status:	Closed
Publisher DOI:	https://doi.org/10.1016/j.ejmg.2017.06.004
PubMed ID:	28645799