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Birk declare no conflicts of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Studies of patients and unaffected family members were conducted following SUMC IRB approval.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Studies of patients and unaffected family members were conducted after a thorough description of the study, goals, benefits and risks, and after obtaining written informed consent from patients or guardians.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent"}},{"value":"The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available because they contain information that could compromise research participant privacy\/consent.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data availability"}},{"value":"Not applicable.","order":7,"name":"Ethics","group":{"name":"EthicsHeading","label":"Code availability"}},{"value":"YY and OSB initiated the study, contributed to its conception and design, and drafted the manuscript. YY, OW, MD and DH contributed to the design of this study, acquired, and analyzed the data, and had access to and verified the underlying data. YY, JB, YS, AM, YC, YF, MAM, YF and OSB contributed to the clinical data. All authors critically reviewed and approved the manuscript. OSB supervised the research process.","order":8,"name":"Ethics","group":{"name":"EthicsHeading","label":"Author contributions"}}]}}