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Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

Authors :
Xiao Chen
John Harting
Emily Farrow
Isabelle Thiffault
Dalia Kasperaviciute
Alexander Hoischen
Christian Gilissen
Tomi Pastinen
Michael A. Eberle
Source :
American Journal of Human Genetics, 110, 2, pp. 240-250, American Journal of Human Genetics, 110, 240-250
Publication Year :
2023
Publisher :
Elsevier BV, 2023.

Abstract

Contains fulltext : 290548.pdf (Publisher’s version ) (Open Access)

Details

ISSN :
00029297
Volume :
110
Database :
OpenAIRE
Journal :
The American Journal of Human Genetics
Accession number :
edsair.doi.dedup.....9a4e76ced7c547831e4136f70e7b7e97