Varaico: Literature-Extracted Genetic Variants

Gene:NFATC2
Variant:p.A59V
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NFATC2

NM_012340.5:p.A59V

Associated Papers

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain-specific mutations in MAFB, a negative regulator of RANKL-induced osteoclastogenesis.

Mumm S et al.

American Journal of Medical Genetics. Part A, 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."