VARIANT: 4036v1
Help
Entry
4036v1 Variant
Name
LRP2 mutation
Gene
LRP2
LDL receptor related protein 2 [KO:
K06233
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
600073
Network
nt06501
HH signaling
Disease
H00886
Donnai-Barrow syndrome
Reference
PMID:
31781166
Authors
Sasai N, Toriyama M, Kondo T
Title
Hedgehog Signal and Genetic Disorders.
Journal
Front Genet 10:1103 (2019)
DOI:
10.3389/fgene.2019.01103
LinkDB
All DBs
DBGET
integrated database retrieval system