Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.D234del1
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GLA

NM_000169.3:p.D234del1

Associated Papers

Chest Discomfort, Left Ventricular Hypertrophy, Global T-Wave Inversion, and Short PR Interval Points to a Particular Cardiac Condition. What Could Be the Diagnosis?

Li JX et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2025

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

Kobayashi M et al.

Journal of Human Genetics, 2019

Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy.

Aguiar P et al.

Journal of the American Heart Association, 2018

29535138 (PubMed )
Supplement: JAH3-7-e007124-s001.pdf

Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.

Lavalle L et al.

Plos One, 2018

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A
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