Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.L385L
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CHIT1

NM_003465.3:p.L385L

Associated Papers

Chitotriosidase deficiency: a mutation update in an african population.

Arndt S et al.

Jimd Reports, 2013

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."