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22. The mutation p.D313Y is associated with organ manifestation in Fabry disease. du Moulin M; Koehn AF; Golsari A; Dulz S; Atiskova Y; Patten M; Münch J; Avanesov M; Ullrich K; Muschol N Clin Genet; 2017 Nov; 92(5):528-533. PubMed ID: 28276057 [TBL] [Abstract][Full Text] [Related]
23. Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease. Lukas J; Scalia S; Eichler S; Pockrandt AM; Dehn N; Cozma C; Giese AK; Rolfs A Hum Mutat; 2016 Jan; 37(1):43-51. PubMed ID: 26415523 [TBL] [Abstract][Full Text] [Related]
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