Varaico: Literature-Extracted Genetic Variants

Gene:CYP26C1
Variant:p.R160H
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CYP26C1

NM_183374.3:p.R160H

Associated Papers

Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature.

Montalbano A et al.

European Journal of Human Genetics : Ejhg, 2018

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.

Montalbano A et al.

Embo Molecular Medicine, 2016

27861128 (PubMed )
Supplement: EMMM-8-1455-s006.xlsx › Dataset_EV3
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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."