VARIANT: 9210v1
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Entry
9210v1 Variant
Name
BMP15 mutation
Type
Loss of function
Gene
BMP15
bone morphogenetic protein 15 [KO:
K05498
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
300247
Network
nt06507
TGFB signaling
Disease
H00599
Ovarian dysgenesis
Reference
PMID:
17826728
Authors
Ledig S, Ropke A, Haeusler G, Hinney B, Wieacker P
Title
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
Journal
Am J Obstet Gynecol 198:84.e1-5 (2008)
DOI:
10.1016/j.ajog.2007.05.029
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