Varaico: Literature-Extracted Genetic Variants

Gene:TCIRG1
Variant:p.G410R
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TCIRG1

NM_006019.4:p.G410R

Associated Papers

Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.

Luong LH et al.

American Journal of Medical Genetics. Part A, 2022

Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis.

Capo V et al.

Haematologica, 2021

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

Cao W et al.

Bmj Open Ophthalmology, 2018

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

A single-center experience in 20 patients with infantile malignant osteopetrosis.

Mazzolari E et al.

American Journal of Hematology, 2009

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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."