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

Authors :: Chen, Xiao
Harting, John
Farrow, E.
Thiffault, I.
Kasperaviciute, Dalia
Genomics England Res Consortium, Genomics England Research Consortium
Hoischen, A.
Gilissen, C.
Pastinen, T.
Eberle, Michael A.
Chen, Xiao
Harting, John
Farrow, E.
Thiffault, I.
Kasperaviciute, Dalia
Genomics England Res Consortium, Genomics England Research Consortium
Hoischen, A.
Gilissen, C.
Pastinen, T.
Eberle, Michael A.
Source :: American Journal of Human Genetics; 240; 250; 0002-9297; 2; 110; ~American Journal of Human Genetics~240~250~~~0002-9297~2~110~~
Publication Year :: 2023
Abstract: Item does not contain fulltext

Database :: OAIster
Journal :: American Journal of Human Genetics; 240; 250; 0002-9297; 2; 110; ~American Journal of Human Genetics~240~250~~~0002-9297~2~110~~
Publication Type :: Electronic Resource
Accession number :: edsoai.on1373388715
Document Type :: Electronic Resource

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