Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.H44Y
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GALK1

NM_000154.2:p.H44Y

Associated Papers

Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms.

Santhiya ST et al.

Molecular Vision, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

Molecular structure of human galactokinase: implications for type II galactosemia.

Thoden JB et al.

The Journal of Biological Chemistry, 2005

Galactokinase: structure, function and role in type II galactosemia.

Holden HM et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.

Hartley A et al.

Journal of Molecular Biology, 2004

Sugar recognition by human galactokinase.

Timson DJ et al.

Bmc Biochemistry, 2003

Molecular structure of galactokinase.

Thoden JB et al.

The Journal of Biological Chemistry, 2003

Functional analysis of disease-causing mutations in human galactokinase.

Timson DJ et al.

European Journal of Biochemistry, 2003

Novel mutations in 13 probands with galactokinase deficiency.

Kolosha V et al.

Human Mutation, 2000

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