Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.P391L
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CHIT1

NM_003465.3:p.P391L

Associated Papers

Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.

Torralba MA et al.

Qjm : Monthly Journal of the Association of Physicians, 2016

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

Alfonso P et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

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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."