Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H1
Variant:p.L235L
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GTF2H1

NM_005316.4:p.L235L

Associated Papers

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

Lu D et al.

Orphanet Journal of Rare Diseases, 2020

[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].

Han F et al.

Zhonghua Yi Xue Za Zhi, 2014

[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].

Wang Y et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

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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."