Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.P305delFs
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GLA

NM_000169.3:p.P305delFs

Associated Papers

Dosage Compensation in Females with X-Linked Metabolic Disorders.

Juchniewicz P et al.

International Journal of Molecular Sciences, 2021

33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S3.pdf

Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease.

Altarescu G et al.

Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2013

X-inactivation in Fabry disease.

Elstein D et al.

Gene, 2012

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

Maier EM et al.

Acta Paediatrica (oslo, Norway : 1992). Supplement, 2006

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.

Schäfer E et al.

Human Mutation, 2005

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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."