KEGG   VARIANT: 269v1
Entry
269v1                      Variant                                 
Name
AMHR2 mutation
Type
Loss of function
Gene
AMHR2  anti-Mullerian hormone receptor type 2 [KO:K04672]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600956
Network
nt06507  TGFB signaling
Disease
H00609  Persistent Mullerian duct syndrome
Reference
PMID:15878900
  Authors
Josso N, Belville C, di Clemente N, Picard JY
  Title
AMH and AMH receptor defects in persistent Mullerian duct syndrome.
  Journal
Hum Reprod Update 11:351-6 (2005)
DOI:10.1093/humupd/dmi014
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