Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.A176_M177insFs
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GALT

NM_000155.4:p.A176_M177insFs

Associated Papers

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

Calderon FR et al.

Human Mutation, 2007

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

Maceratesi P et al.

Human Mutation, 1996

The molecular biology of galactosemia.

Elsas LJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."