Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.P395L
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CHIT1

NM_003465.3:p.P395L

Associated Papers

Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders.

Verma J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.

Ankleshwaria C et al.

Journal of Human Genetics, 2014

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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."