Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.M1L
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PRH1

NM_001393989.1:p.M1L

Associated Papers

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.

Atçeken N et al.

Turkish Journal of Medical Sciences, 2016

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options.

Gruenauer-Kloevekorn C et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2008

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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."