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Mutated in human diseases
VCP
TMEM16E
ZIC3
ATP7A
Proteins
WNTs
GLI1
CD47
IL12B
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emedicine
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BMPR1A
MIM.601299 10q22.3
ALK3, ACVRLK3
Pathology
mutation in
Cowden disease
(MIM.158350)
mutation in
juvenile polyp
osis (MIM.174900)
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