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Explore Editage All Accesshttps://doi.org/10.1136/jmedgenet-2011-100378
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Dec 13, 2011 |
 Citations: 45 |
Affiliation: Birmingham Women's Hospital, Our Lady's Hospital, Centre Hospitalier Universitaire Dijon Bourgogne, University of Birmingham, Great Ormond Street Hospital, University College London, KU Leuven, Hôpital Nord, Royal Devon and Exeter Hospital, London North West Healthcare NHS Trust, Laboratory KroneBackgroundGermline mutations in the CHRNG gene that encodes the γ subunit of the embryonal acetylcholine receptor may cause the non-lethal Escobar variant (EVMPS) or the lethal form (LMPS) of multiple...
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