Voltar
Artigo Revisado por pares
BIBTEX RIS

Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing

2023; Springer Nature; Volume: 68; Issue: 6 Linguagem: Inglês

10.1038/s10038-023-01130-8

ISSN

1435-232X

Autores

Kumiko Yanagi, Jonathan D. Coker, Kaori Miyana, Seijiro Aso, Nana Kobayashi, Kazuhito Satou, Adam Richman, Suneel Indupuru, Yoichi Matsubara, Tadashi Kaname,

Tópico(s)

RNA Research and Splicing

Referência(s)