Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF11B
Variant:p.S374R
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TNFRSF11B

NM_002546.4:p.S374R

Associated Papers

Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.

Schneider P et al.

The Journal of Biological Chemistry, 2001

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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."