Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.D427N
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GLA

NM_000169.3:p.D427N

Associated Papers

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Kermond-Marino A et al.

Kidney International Reports, 2023

37441486 (PubMed )
Supplement: mmc1.pdf

Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Suzuki H et al.

Nature, 2019

31664194 (PubMed )
Supplement: NIHMS1539056-supplement-2.xlsx › Supplementary_Table_5

Yeast Skn7p activity is modulated by the Sln1p-Ypd1p osmosensor and contributes to regulation of the HOG pathway.

Ketela T et al.

Molecular & General Genetics : Mgg, 1998

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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."