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Walpole, S.; Pritchard, A.L.; Cebulla, C.M.; Pilarski, R.; Stautberg, M.; Davidorf, F.H.; ... ; Hayward, N.K.
2018
Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide
Article / Letter to editor
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Lehtokari, V.L.; Kiiski, K.; Sandaradura, S.A.; Laporte, J.; Repo, P.; Frey, J.A.; ... ; Wallgren-Pettersson, C.
2014
Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies
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