Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.L195L
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GALT

NM_000155.4:p.L195L

Associated Papers

A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

Coelho AI et al.

Journal of Inherited Metabolic Disease, 2014

Mutational spectrum of classical galactosaemia in Spain and Portugal.

Gort L et al.

Journal of Inherited Metabolic Disease, 2006

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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."