Varaico: Literature-Extracted Genetic Variants

Gene:PAPSS1
Variant:p.Q471R
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PAPSS1

NM_005443.5:p.Q471R

Associated Papers

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.

Oheim R et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020

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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."