KEGG   VARIANT: 78995v1
Entry
78995v1                      Variant                               
Name
HROB mutation
Type
Loss of function
Gene
HROB  homologous recombination factor with OB-fold [KO:K27803]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 618611
Network
nt06508  Interstrand crosslink repair
Disease
H00599  Ovarian dysgenesis
Reference
PMID:34707299
  Authors
Tucker EJ, Bell KM, Robevska G, van den Bergen J, Ayers KL, Listyasari N, Faradz SM, Dulon J, Bakhshalizadeh S, Sreenivasan R, Nouyou B, Carre W, Akloul L, Duros S, Domin-Bernhard M, Belaud-Rotureau MA, Touraine P, Jaillard S, Sinclair AH
  Title
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
  Journal
Eur J Hum Genet 30:219-228 (2022)
DOI:10.1038/s41431-021-00977-9
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