Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.P323T
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GLA

NM_000169.3:p.P323T

Associated Papers

Functional characterization of novel variants found in patients with suspected Fabry disease.

Varela-Calais P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

Description of a New GLA Gene Variant in a Patient with Hypertrophic Cardiomyopathy. Is it Fabry Disease?

Bittencourt MI

Arquivos Brasileiros De Cardiologia, 2019

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

Chaves-Markman ÂV et al.

Arquivos Brasileiros De Cardiologia, 2019

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