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29. Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability. Donkervoort S; Hu Y; Stojkovic T; Voermans NC; Foley AR; Leach ME; Dastgir J; Bolduc V; Cullup T; de Becdelièvre A; Yang L; Su H; Meilleur K; Schindler AB; Kamsteeg EJ; Richard P; Butterfield RJ; Winder TL; Crawford TO; Weiss RB; Muntoni F; Allamand V; Bönnemann CG Hum Mutat; 2015 Jan; 36(1):48-56. PubMed ID: 25204870 [TBL] [Abstract][Full Text] [Related]
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36. [Unraveling the pathophysiology of Bethlem Myopathy using a unique zebrafish model for the disease]. Idoux R; Bretaud S; Berthier C; Jacquemond V; Ruggiero F; Allard B Med Sci (Paris); 2019 Nov; 35 Hors série n° 2():39-42. PubMed ID: 31859630 [TBL] [Abstract][Full Text] [Related]
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