Varaico: Literature-Extracted Genetic Variants

Gene:LCT
Variant:p.Y1473*
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LCT

NM_002299.4:p.Y1473*

Associated Papers

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe.

Fazeli W et al.

Bmc Gastroenterology, 2015

Congenital lactose intolerance is triggered by severe mutations on both alleles of the lactase gene.

Diekmann L et al.

Bmc Gastroenterology, 2015

Two novel mutations in the lactase gene in a Japanese infant with congenital lactase deficiency.

Uchida N et al.

The Tohoku Journal of Experimental Medicine, 2012

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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."