Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.E74K
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CHIT1

NM_003465.3:p.E74K

Associated Papers

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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.

Grace ME et al.

Human Mutation, 2007

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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."