- Tytuł:
-
Haplotype information of large
neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield. - Autorzy:
- Źródło:
- Scientific reports [Sci Rep] 2024 Feb 21; Vol. 14 (1), pp. 4306. Date of Electronic Publication: 2024 Feb 21.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Neuromuscular Diseases */diagnosisNeuromuscular Diseases */genetics
MuscularDiseases *
Myopathies, Nemaline*
Humans ; Haplotypes/genetics ; DNA ; High-Throughput Nucleotide Sequencing
Czasopismo naukowe