VARIANT: 8516v1
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Entry
8516v1 Variant
Name
ITGA8 mutation
Type
Loss of function
Gene
ITGA8
integrin subunit alpha 8 [KO:
K06584
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
604063
Network
nt06548
Integrin signaling
Disease
H00822
Renal hypodysplasia and aplasia
Reference
PMID:
24439109
Authors
Humbert C, Silbermann F, Morar B, Parisot M, Zarhrate M, Masson C, Tores F, Blanchet P, Perez MJ, Petrov Y, Khau Van Kien P, Roume J, Leroy B, Gribouval O, Kalaydjieva L, Heidet L, Salomon R, Antignac C, Benmerah A, Saunier S, Jeanpierre C
Title
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Journal
Am J Hum Genet 94:288-94 (2014)
DOI:
10.1016/j.ajhg.2013.12.017
LinkDB
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DBGET
integrated database retrieval system
