Varaico: Literature-Extracted Genetic Variants

Gene:TCIRG1
Variant:p.L399R
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TCIRG1

NM_006019.4:p.L399R

Associated Papers

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

In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.

Blair HC et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2004

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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."