Varaico: Literature-Extracted Genetic Variants

Gene:CTH
Variant:p.Q240E
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CTH

NM_001902.6:p.Q240E

Associated Papers

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Lim BWX et al.

Journal of the National Cancer Institute, 2023

Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.

Kraus JP et al.

Molecular Genetics and Metabolism, 2009

Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S.

Sun Q et al.

The Journal of Biological Chemistry, 2009

Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase.

Zhu W et al.

Biochemistry, 2008

Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).

Wang J et al.

Human Genetics, 2003

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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."