Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.Q169K
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CDSN

NM_001264.5:p.Q169K

Associated Papers

Structural and functional analysis of hyper-thermostable ancestral L-amino acid oxidase that can convert Trp derivatives to D-forms by chemoenzymatic reaction.

Kawamura Y et al.

Communications Chemistry, 2023

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).

Kozák L et al.

Human Mutation, 2000

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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."