Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.S297P
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GALT

NM_000155.4:p.S297P

Associated Papers

Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.

Schadewaldt P et al.

Archives of Physiology and Biochemistry, 2014

Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.

Milánkovics I et al.

Wiener Klinische Wochenschrift, 2010

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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."