Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC1
Variant:p.H30L
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EXOSC1

NM_016046.5:p.H30L

Associated Papers

Human catalase, its polymorphisms, regulation and changes of its activity in different diseases.

Kodydková J et al.

Folia Biologica, 2014

Promoter variant in the catalase gene is associated with vitiligo in Chinese people.

Liu L et al.

The Journal of Investigative Dermatology, 2010

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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."