Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Chen, Xiao; Sanchis-Juan, Alba; French, Courtney E.; Connell, Andrew J.; Delon, Isabelle; Kingsbury, Zoya; Chawla, Aditi; Halpern, Aaron L.; Taft, Ryan J.; Bentley, David R.; Butchbach, Matthew E. R.; Raymond, F. Lucy; Eberle, Michael A.

期刊名称Genetics in Medicine
作者Chen, Xiao; Sanchis-Juan, Alba; French, Courtney E.; Connell, Andrew J.; Delon, Isabelle; Kingsbury, Zoya; Chawla, Aditi; Halpern, Aaron L.; Taft, Ryan J.; Bentley, David R.; Butchbach, Matthew E. R.; Raymond, F. Lucy; Eberle, Michael A.
印刷ISSN1098-3600
电子ISSN1530-0366
文件大小837.51KB
发表时间2020-2-18
DOI10.1038/s41436-020-0754-0

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Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data