Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.G19Splc
Back to variants list

CHIT1

NM_003465.3:p.G19Splc

Associated Papers

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.

Dimitriou E et al.

Molecular Genetics and Metabolism Reports, 2020

Genetic and clinical characteristics of Filipino patients with Gaucher disease.

Chiong MAD et al.

Molecular Genetics and Metabolism Reports, 2018

A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.

Zhang W et al.

The Analyst, 2017

Lysosomal Storage Disorders in Egyptian Children.

Elmonem MA et al.

Indian Journal of Pediatrics, 2016

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."