Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.A442V
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CHIT1

NM_003465.3:p.A442V

Associated Papers

Glucosylsphingosine (Lyso-Gb1): An Update on Its Use as a Biomarker in Gaucher Disease.

Carubbi F et al.

International Journal of Molecular Sciences, 2026

Chitotriosidase gene polymorphisms and mutations limit the determination of chitotriosidase expression in sarcoidosis.

Csongrádi A et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study.

Sperb-Ludwig F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

The Genetic Polymorphisms of 24 Base Pair Duplication and Point G102S of Human Chitotriosidase to Bancroftian Filariasis at the Thai⁻Myanmar Border.

Sanprasert V et al.

Pathogens (basel, Switzerland), 2019

Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene.

Mavrikiou G et al.

Clinical Biochemistry, 2016

High prevalence of chitotriosidase deficiency in Peruvian Amerindians exposed to chitin-bearing food and enteroparasites.

Manno N et al.

Carbohydrate Polymers, 2014

HGV&TB: a comprehensive online resource on human genes and genetic variants associated with tuberculosis.

Sahajpal R et al.

Database : the Journal of Biological Databases and Curation, 2014

25502817 (PubMed )
Supplement: bau112_Supplementary_Data.zip › Supplementary_Table_1.doc

Association of genetic variation in chitotriosidase with atopy in Korean children.

Kim KW et al.

Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2013

Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.

Adelino TER et al.

Jimd Reports, 2013

Chitotriosidase deficiency: a mutation update in an african population.

Arndt S et al.

Jimd Reports, 2013

Chitotriosidase deficiency in Brazil: evaluation of enzyme activity and genotypes.

Rodrigues MD et al.

Blood Cells, Molecules & Diseases, 2010

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.

Lee P et al.

Blood Cells, Molecules & Diseases, 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."