Varaico: Literature-Extracted Genetic Variants

Gene:TCIRG1
Variant:p.G579R
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TCIRG1

NM_006019.4:p.G579R

Associated Papers

Patient-Reported Outcomes in Autosomal Dominant Osteopetrosis: Findings From the Osteopetrosis Registry Study.

Polgreen LE et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.

Jodeh W et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Unusual Cortical Phenotype After Hematopoietic Stem Cell Transplantation in a Patient With Osteopetrosis.

Afshariyamchlou S et al.

Jbmr Plus, 2022

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

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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."