VARIANT: 22808v1
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Entry
22808v1 Variant
Name
MRAS mutation
Type
Gain of function
Gene
MRAS
muscle RAS oncogene homolog [KO:
K07831
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
608435
Network
nt06526
MAPK signaling
Disease
H01738
Noonan syndrome
Reference
PMID:
36394128
Authors
Tartaglia M, Aoki Y, Gelb BD
Title
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
Journal
Am J Med Genet C Semin Med Genet 190:425-439 (2022)
DOI:
10.1002/ajmg.c.32012
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