Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.E79K
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GLA

NM_000169.3:p.E79K

Associated Papers

Newborn screening in mucopolysaccharidoses.

Donati MA et al.

Italian Journal of Pediatrics, 2018

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Burlina AB et al.

Journal of Inherited Metabolic Disease, 2018

The CDC Hemophilia B mutation project mutation list: a new online resource.

Li T et al.

Molecular Genetics & Genomic Medicine, 2013

24498619 (PubMed )
Supplement: mgg30001-0238-SD1.xlsx › CHBMP_Mutation_List
Select a paper to view details
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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."