SMPD1 expression profile and mutation landscape help decipher genotype-phenotype association and precision diagnosis for acid sphingomyelinase deficiency.

"Declarations Ethics approval and consent to participatePatient consent was not required because this study used public data. Consent for publicationPatient consent was not required because this study used public data. Competing interestsThe authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Competing interests The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest."

"Funding Project of Hunan Provincial Department of Education (22C0389) and Hunan University of Arts and Science Research Project 22YB13 supported this work."