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Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing

Lookup NU author(s): Lauren Phillips, Dr Ana TopfORCiD, Dr Katherine JohnsonORCiD, Dr Marta Bertoli, Professor Volker StraubORCiD

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Author(s): Phillips L, Töpf A, Johnson K, Bertoli M, Xu L, Lek M, Claeys K, Van den Bergh P, Vissing J, Colomer J, Wallgren-Patterson C, de Munain AL, Vilchez J, Kostera-Pruszczyk A, MacArthur D, Straub V

Publication type: Conference Proceedings (inc. Abstract)

Publication status: Published

Conference Name: 21st International Congress of the World Muscle Society

Year of Conference: 2016

Pages: S166

Print publication date: 01/10/2016

Online publication date: 09/09/2016

Acceptance date: 17/05/2016

ISSN: 0960-8966

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.nmd.2016.06.291

DOI: 10.1016/j.nmd.2016.06.291

Series Title: Neuromuscular Disorders

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