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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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