Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Q57R
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GLA

NM_000169.3:p.Q57R

Associated Papers

A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.

Carli D et al.

Jama Network Open, 2025

41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3

Gastrointestinal Involvement in Anderson-Fabry Disease: A Narrative Review.

Caputo F et al.

International Journal of Environmental Research and Public Health, 2021

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

Favalli V et al.

Journal of the American College of Cardiology, 2016

Primary motor cortex hyperexcitability in Fabry's disease.

Ortu E et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2013

Urine bikunin as a marker of renal impairment in Fabry's disease.

Lepedda AJ et al.

Biomed Research International, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."