Varaico: Literature-Extracted Genetic Variants

Gene:TCIRG1
Variant:p.E266*
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TCIRG1

NM_006019.4:p.E266*

Associated Papers

Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.

Cao W et al.

Bmj Open Ophthalmology, 2018

[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis].

Wang M et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017

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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."