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

Wang, Ruisong; Qin, Ziyi; Huang, Long; Luo, Huiling; Peng, Han; Zhou, Xinyu; Zhao, Zhixiang; Liu, Mingyao; Yang, Pinhong; Shi, Tieliu

doi:10.1186/s41065-023-00272-1

Hereditas

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Last updated: Sat, 27 Apr 2024 1:59:05 Z

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

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ISSN: 1601-5223

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