Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).

"polyphen: http://genetics bwh harvard edu/pph2/ mutationtaster: https://www mutationtaster org/ loftool and caad are plugins developed by ensembl and available in a public github repository: https://github com/ensembl/vep_plugins sift: https://sift bii a-star edu sg/ gnomad: https://gnomad broadinstitute org/ phyre2 web portal: http://www sbg bio ic ac uk/phyre2/html/page cgi?"

"CONFLICT OF INTERESTS This study was sponsored and funded by Ultragenyx Pharmaceutical Inc. (Ultragenyx) in partnership with Kyowa Kirin International. Y. Sabbagh is an employee of Inozyme Pharma. S. Daugherty, N. Miller, S. Krolczyk and P. Ramesan are employees and shareholders of Ultragenyx. S. Sarafrazi, P. Boada and S. Eisenbeis are former employees of Ultragenyx and S. Eisenbeis is also a shareholder. K. Dill is a 3rd party contractor for Ultragenyx. B. Johnson and R. Truty are employees and shareholders of Invitae Corporation. L. Chunn and M. J. Kiel are employees of Genomenon Inc. T. O. Carpenter and E. A. Imel have received research funding from Ultragenyx. M. J. Econs has received consultant fees from Ultragenyx and holds a patent that is licensed to Ultragenyx."

"The authors thank Vanessa Rangel Miller, for expert guidance during the development of the database and manuscript, Jeffrey Eisenbeis, for assistance with the serum phosphorous analysis, and Marc Vincent, Rick Barbarash, Ana Morales, and Swaroop Aradhya, for their input in the early stages of this manuscript. This study was sponsored by Ultragenyx Pharmaceutical Inc. in partnership with Kyowa Kirin International."