Work

P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants

Year: 2023

Type: conference-abstract

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2023.07.286

Authors: K. Koczwara, N. Lake, S. Huang, A. DeSimone, S. Pajusalu, K. Branford, D. Hallak, K. Woodman, J. Xu, A. Lek, H. Best, A. Habib, J. Avelar, V. Martin, T. Mozaffar, P. Shieh, N. Weisleder, M. Lek

Institutions: Yale University, The Ohio State University, University of California, Irvine, University of California, Los Angeles

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4387310235

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