VARIANT: 93v1
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Entry
93v1 Variant
Name
ACVR2B mutation
Type
Loss of function
Gene
ACVR2B
activin A receptor type 2B [KO:
K13596
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
602730
Network
nt06507
TGFB signaling
Disease
H00632
Heterotaxy
Reference
PMID:
11376438
Authors
Kathiriya IS, Srivastava D
Title
Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease.
Journal
Am J Med Genet 97:271-9 (2000)
DOI:
10.1002/1096-8628(200024)97:4<271::aid-ajmg1277>3.0.co;2-o
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