Varaico: Literature-Extracted Genetic Variants

Gene:HAL
Variant:p.R322Q
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HAL

NM_002108.4:p.R322Q

Associated Papers

Amino Acid Metabolism of the Skin: Control by Specific Enzymes and Contribution to Protective Functions.

Dörner C et al.

Metabolites, 2025

Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene.

Kawai Y et al.

Human Genetics, 2005

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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."