Varaico: Literature-Extracted Genetic Variants

Gene:CALHM3
Variant:p.Q297*
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CALHM3

NM_001129742.2:p.Q297*

Associated Papers

Proinflammatory cytokine gene polymorphisms and susceptibility to Paget's disease of bone: an association study.

Gallone S et al.

Cytokine, 2011

Detection of Exon 8 mutations in sqstm1/p62 gene by mutation-specific restriction enzyme digestion: a sensitive screening for Paget disease of bone.

Gallone S et al.

Panminerva Medica, 2011

Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.

Björses P et al.

American Journal of Human Genetics, 2000

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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."