SMN1 c.*3+215A>G

Variant ID: 5-70248036-A-G

NM_000344.3(SMN1):c.*3+215A>G

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR.

European Journal Of Human Genetics : Ejhg
Czibere, Ludwig L; Burggraf, Siegfried S; Fleige, Tobias T; Glück, Birgit B; Keitel, Lisa Marie LM; Landt, Olfert O; Durner, Jürgen J; Röschinger, Wulf W; Hohenfellner, Katharina K; Wirth, Brunhilde B; Müller-Felber, Wolfgang W; Vill, Katharina K; Becker, Marc M
Publication Date: 2020-01

Variant appearance in text: rs1244569826
PubMed Link: 31363188
Variant Present in the following documents:
  • Main text
View BVdb publication page