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.




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