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First results from The Spanish Fabry Women Study: A retrospective observational study describing the phenotype of female carrying genetic variants associated to Fabry disease

Rosario Sanchez,Joaquin de Juan-Ribera,Juan Ramon Gimeno,Tomas Ripoll-Vera,Manuel Lopez-Mendoza,Alvaro Hermida,Roser Torra,Maria Aurora Ruz-Zafra,Vicent Torregrosa,Antonia Mora,Elena Fortuny,Jose Manuel Garcia-Pinilla

MOLECULAR GENETICS AND METABOLISM（2022）

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关键词
spanish fabry women study,phenotype,genetic variants
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