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SMN1 c.472del ;(p.E158Rfs*55)
Variant ID: 5-70238383-AG-A
NM_000344.3(
SMN1
):c.472del;(p.E158Rfs*55)
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:
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.
International Journal Of Molecular Sciences
Butchbach, Matthew E R MER
Publication Date: 2021-07-23
Variant appearance in text: SMA: 472del
PubMed Link:
34360669
Variant Present in the following documents:
Main text
ijms-22-07896.pdf
View BVdb publication page