Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.H184Q
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GALT

NM_000155.4:p.H184Q

Associated Papers

Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.

McCorvie TJ et al.

Human Molecular Genetics, 2016

27005423 (PubMed )
Supplement: supp_ddw091_SupplementaryInformation.pdf

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

Calderon FR et al.

Human Mutation, 2007

Molecular analysis in newborns from Texas affected with galactosemia.

Yang YP et al.

Human Mutation, 2002

Significance of metal ions in galactose-1-phosphate uridylyltransferase: an essential structural zinc and a nonessential structural iron.

Geeganage S et al.

Biochemistry, 1999

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Tyfield L et al.

Human Mutation, 1999

The molecular biology of galactosemia.

Elsas LJ et al.

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

Outcomes analysis of verbal dyspraxia in classic galactosemia.

Robertson A 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."