Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.A114V
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SERPINA1

NM_000295.5:p.A114V

Associated Papers

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

Melenovská P et al.

Journal of Inherited Metabolic Disease, 2015

Pharmacogenetics of fluoropyrimidine and cisplatin. A future application to gastric cancer treatment.

Shimoyama S

Journal of Gastroenterology and Hepatology, 2009

The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

Moat SJ et al.

Human Mutation, 2004

Naturally occurring Phe151Leu substitution near a conserved folding module lowers stability of glutathione transferase P1-1.

Lin HJ et al.

Biochimica Et Biophysica Acta, 2003

Glutathione S-transferase P1 (GSTP1) polymorphism in patients with chronic obstructive pulmonary disease.

Ishii T et al.

Thorax, 1999

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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."