Varaico: Literature-Extracted Genetic Variants

Gene:TCIRG1
Variant:p.R426*
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TCIRG1

NM_006019.4:p.R426*

Associated Papers

A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.

Amirfiroozy A et al.

Molecular and Cellular Probes, 2025

Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis.

Siddaiahgari SR et al.

Indian Journal of Pediatrics, 2014

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.

Pangrazio A et al.

Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2012

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Phadke SR et al.

The Indian Journal of Medical Research, 2010

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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."