SMN1 c.422_428del ;(p.L141Pfs*6)

Variant ID: 5-70238330-ATCTACTT-A

NM_000344.3(SMN1):c.422_428del;(p.L141Pfs*6)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Development of a Multiplex Real-Time PCR Assay for the Newborn Screening of SCID, SMA, and XLA.

International Journal Of Neonatal Screening
Gutierrez-Mateo, Cristina C; Timonen, Anne A; Vaahtera, Katja K; Jaakkola, Markku M; Hougaard, David M DM; Bybjerg-Grauholm, Jonas J; Baekvad-Hansen, Marie M; Adamsen, Dea D; Filippov, Galina G; Dallaire, Stephanie S; Goldfarb, David D; Schoener, Daniel D; Wu, Rongcong R
Publication Date: 2019-12

Variant appearance in text: SMN1: 422_428del
PubMed Link: 33072998
Variant Present in the following documents:
  • Main text
  • IJNS-05-00039.pdf
View BVdb publication page