Work

Clinical and molecular complexity of X-linked clustering epilepsy, a disorder of cellular mosaics

Year: 2020

Type: article

Source: European Journal of Human Genetics

Authors: Jozef Gécz, Kristy L. Kolc, Lynette G. Sadleir, Christel Depienne, Carla Marini, Ingrid E. Scheffer, Rikke S. Møller, Marina Trivisano, Nicola Specchio, Raman Kumar, Daphne Q.‐D. Pham, R. H. Roberts

Language: English

Topic: Epilepsy research and treatment

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Biotechnology and Biological Sciences Research Council

Award: Understanding the role of U5 snRNP gene mutation in pre-messenger RNA splicing and craniofacial development

OpenAlex ID: W3134532789

FWCI:

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