Varaico: Literature-Extracted Genetic Variants

Gene:RUBCN
Variant:p.D313Y
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RUBCN

NM_014687.4:p.D313Y

Associated Papers

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

Citro V et al.

International Journal of Molecular Sciences, 2016

Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.

Favalli V et al.

Journal of the American College of Cardiology, 2016

In Patients with an α-Galactosidase A Variant, Small Nerve Fibre Assessment Cannot Confirm a Diagnosis of Fabry Disease.

van der Tol L et al.

Jimd Reports, 2016

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