VARIANT: 145873v1
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Entry
145873v1 Variant
Name
MESP2 mutation
Gene
MESP2
mesoderm posterior bHLH transcription factor 2 [KO:
K09076
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
605195
Network
nt06511
NOTCH signaling
Disease
H00517
Spondylocostal dysostosis
Reference
PMID:
35332121
Authors
Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q
Title
Notch signaling pathway: architecture, disease, and therapeutics.
Journal
Signal Transduct Target Ther 7:95 (2022)
DOI:
10.1038/s41392-022-00934-y
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