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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TNFRSF11B

Variant:p.D323_Q324insFs

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TNFRSF11B

NM_002546.4:p.D323_Q324insFs

hg38:chr8:118924611 G>GAA

Associated Papers

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Chong B et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2003

14672344 (PubMed )

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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."