KEGG   VARIANT: 84971v1
Entry
84971v1                      Variant                               
Name
ATG4D mutation
Type
Loss of function
Gene
ATG4D  autophagy related 4D cysteine peptidase [KO:K08342]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611340
Network
nt06532  Autophagy
Disease
H01282  Spermatogenic failure
Reference
PMID:33988247
  Authors
Sha Y, Liu W, Wei X, Zhu X, Tang B, Zhang X, Yang X, Wang Y, Wang X
  Title
Pathogenic variants of ATG4D in infertile men with non-obstructive azoospermia identified using whole-exome sequencing.
  Journal
Clin Genet 100:280-291 (2021)
DOI:10.1111/cge.13995
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