Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.I317delFs
Back to variants list

GLA

NM_000169.3:p.I317delFs

Associated Papers

Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.

Savostyanov K et al.

Genes, 2023

The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.

Moiseev S et al.

Genes, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."