Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.G104A
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GLA

NM_000169.3:p.G104A

Associated Papers

Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.

Cimmaruta C et al.

Bmc Bioinformatics, 2018

30497360 (PubMed )
Supplement: 12859_2018_2416_MOESM2_ESM.xlsx › ST2
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