Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.Q422*
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GLA

NM_000169.3:p.Q422*

Associated Papers

Spectrum of mutations in fucosidosis.

Willems PJ et al.

European Journal of Human Genetics : Ejhg, 1999

Fucosidosis: genetic and biochemical analysis of eight cases.

Cragg H et al.

Journal of Medical Genetics, 1997

Lysosomal storage diseases.

Gieselmann V

Biochimica Et Biophysica Acta, 1995

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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."