Varaico: Literature-Extracted Genetic Variants

Gene:LCT
Variant:p.Q268H
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LCT

NM_002299.4:p.Q268H

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

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).

Torniainen S et al.

Bmc Gastroenterology, 2009

[Congenital lactase deficiency--a more common disease than previously thought?].

Torniainen S et al.

Duodecim; Laaketieteellinen Aikakauskirja, 2009

Molecular genetics of human lactase deficiencies.

Järvelä I et al.

Annals of Medicine, 2009

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

Kuokkanen M et al.

American Journal of Human Genetics, 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."