KEGG   VARIANT: 10533v1
Entry
10533v1                      Variant                               
Name
ATG7 mutation
Gene
ATG7  autophagy related 7 [KO:K08337]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608760
Network
nt06532  Autophagy
Disease
H01891  Autosomal recessive spinocerebellar ataxias
Reference
  Authors
Khandia R, Dadar M, Munjal A, Dhama K, Karthik K, Tiwari R, Yatoo MI, Iqbal HMN, Singh KP, Joshi SK, Chaicumpa W
  Title
A Comprehensive Review of Autophagy and Its Various Roles in Infectious, Non-Infectious, and Lifestyle Diseases: Current Knowledge and Prospects for  Disease Prevention, Novel Drug Design, and Therapy.
  Journal
Cells 8:cells8070674 (2019)
DOI:10.3390/cells8070674
Reference
  Authors
Collier JJ, Guissart C, Olahova M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schols L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW
  Title
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
  Journal
N Engl J Med 384:2406-2417 (2021)
DOI:10.1056/NEJMoa1915722
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