Varaico: Literature-Extracted Genetic Variants

Gene:TCIRG1
Variant:p.Y303*
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TCIRG1

NM_006019.4:p.Y303*

Associated Papers

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.

Liang H et al.

Molecular Genetics & Genomic Medicine, 2021

CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis.

Yang Y et al.

Molecular Medicine Reports, 2019

Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families.

Zhang XY et al.

Acta Pharmacologica Sinica, 2017

Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.

Yu T et al.

Molecular Medicine Reports, 2014

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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."